sujigwak/NVAR huggingface dataset:
UniProt ID: Q9P2R6
Variant: G -> R at position 1156-1156
Variant annotation: in NEDBEH; uncertain significance; dbSNP:rs766951273
Protein function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.
Reference sequence:
MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRKELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTSPINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPSHAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQLPASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL
UniProt ID: Q9P2R6
Variant: P -> R at position 1262-1262
Variant annotation: in NEDBEH; uncertain significance; dbSNP:rs878853270
Protein function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.
Reference sequence:
MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRKELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTSPINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPSHAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQLPASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL
UniProt ID: Q9P2R6
Variant: H -> Q at position 1431-1431
Variant annotation: in NEDBEH; uncertain significance; dbSNP:rs869312871
Protein function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.
Reference sequence:
MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRKELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTSPINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPSHAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQLPASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL
UniProt ID: Q9P2S2
Variant: L -> Q at position 81-81
Variant annotation: in dbSNP:rs12273892
Protein function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.
Reference sequence:
MASGSRWRPTPPPLLLLLLLALAARADGLEFGGGPGQWARYARWAGAASSGELSFSLRTNATRALLLYLDDGGDCDFLELLLVDGRLRLRFTLSCAEPATLQLDTPVADDRWHMVLLTRDARRTALAVDGEARAAEVRSKRREMQVASDLFVGGIPPDVRLSALTLSTVKYEPPFRGLLANLKLGERPPALLGSQGLRGATADPLCAPARNPCANGGLCTVLAPGEVGCDCSHTGFGGKFCSEEEHPMEGPAHLTLNSEVGSLLFSEGGAGRGGAGDVHQPTKGKEEFVATFKGNEFFCYDLSHNPIQSSTDEITLAFRTLQRNGLMLHTGKSADYVNLSLKSGAVWLVINLGSGAFEALVEPVNGKFNDNAWHDVRVTRNLRQHAGIGHAMVNKLHYLVTISVDGILTTTGYTQEDYTMLGSDDFFYIGGSPNTADLPGSPVSNNFMGCLKDVVYKNNDFKLELSRLAKEGDPKMKLQGDLSFRCEDVAALDPVTFESPEAFVALPRWSAKRTGSISLDFRTTEPNGLLLFSQGRRAGGGAGSHSSAQRADYFAMELLDGHLYLLLDMGSGGIKLRASSRKVNDGEWCHVDFQRDGRKGSISVNSRSTPFLATGDSEILDLESELYLGGLPEGGRVDLPLPPEVWTAALRAGYVGCVRDLFIDGRSRDLRGLAEAQGAVGVAPFCSRETLKQCASAPCRNGGVCREGWNRFICDCIGTGFLGRVCEREATVLSYDGSMYMKIMLPNAMHTEAEDVSLRFMSQRAYGLMMATTSRESADTLRLELDGGQMKLTVNLDCLRVGCAPSKGPETLFAGHKLNDNEWHTVRVVRRGKSLQLSVDNVTVEGQMAGAHMRLEFHNIETGIMTERRFISVVPSNFIGHLSGLVFNGQPYMDQCKDGDITYCELNARFGLRAIVADPVTFKSRSSYLALATLQAYASMHLFFQFKTTAPDGLLLFNSGNGNDFIVIELVKGYIHYVFDLGNGPSLMKGNSDKPVNDNQWHNVVVSRDPGNVHTLKIDSRTVTQHSNGARNLDLKGELYIGGLSKNMFSNLPKLVASRDGFQGCLASVDLNGRLPDLIADALHRIGQVERGCDGPSTTCTEESCANQGVCLQQWDGFTCDCTMTSYGGPVCNDPGTTYIFGKGGALITYTWPPNDRPSTRMDRLAVGFSTHQRSAVLVRVDSASGLGDYLQLHIDQGTVGVIFNVGTDDITIDEPNAIVSDGKYHVVRFTRSGGNATLQVDSWPVNERYPAGNFDNERLAIARQRIPYRLGRVVDEWLLDKGRQLTIFNSQAAIKIGGRDQGRPFQGQVSGLYYNGLKVLALAAESDPNVRTEGHLRLVGEGPSVLLSAETTATTLLADMATTIMETTTTMATTTTRRGRSPTLRDSTTQNTDDLLVASAECPSDDEDLEECEPSTGGELILPIITEDSLDPPPVATRSPFVPPPPTFYPFLTGVGATQDTLPPPAARRPPSGGPCQAERDDSDCEEPIEASGFASGEVFDSSLPPTDDEDFYTTFPLVTDRTTLLSPRKPAPRPNLRTDGATGAPGVLFAPSAPAPNLPAGKMNHRDPLQPLLENPPLGPGAPTSFEPRRPPPLRPGVTSAPGFPHLPTANPTGPGERGPPGAVEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDQSRNYISNSAQSNGAVVKEKAPAAPKTPSKAKKNKDKEYYV
UniProt ID: Q9P2T0
Variant: R -> I at position 202-202
Variant annotation: in dbSNP:rs2303810
Protein function: May be involved (but not essential) in spermatogenesis.
Reference sequence:
MGDSRRRSLGNQPSSEAAGRSEREQDGDPRGLQSSVYESRRVTDPERQDLDNAELGPEDPEEELPPEEVAGEEFPETLDPKEALSELERVLDKDLEEDIPEISRLSISQKLPSTTMTKARKRRRRRRLMELAEPKINWQVLKDRKGRCGKGYAWISPCKMSLHFCLCWPSVYWTERFLEDTTLTITVPAVSRRVEELSRPKRFYLEYYNNNRTTPVWPIPRSSLEYRASSRLKELAAPKIRDNFWSMPMSEVSQVSRAAQMAVPSSRILQLSKPKAPATLLEEWDPVPKPKPHVSDHNRLLHLARPKAQSDKCVPDRDPRWEVLDVTKKVVASPRIISLAKPKVRKGLNEGYDRRPLASMSLPPPKASPEKCDQPRPGL
UniProt ID: Q9P2T0
Variant: R -> Q at position 267-267
Variant annotation: in dbSNP:rs2278287
Protein function: May be involved (but not essential) in spermatogenesis.
Reference sequence:
MGDSRRRSLGNQPSSEAAGRSEREQDGDPRGLQSSVYESRRVTDPERQDLDNAELGPEDPEEELPPEEVAGEEFPETLDPKEALSELERVLDKDLEEDIPEISRLSISQKLPSTTMTKARKRRRRRRLMELAEPKINWQVLKDRKGRCGKGYAWISPCKMSLHFCLCWPSVYWTERFLEDTTLTITVPAVSRRVEELSRPKRFYLEYYNNNRTTPVWPIPRSSLEYRASSRLKELAAPKIRDNFWSMPMSEVSQVSRAAQMAVPSSRILQLSKPKAPATLLEEWDPVPKPKPHVSDHNRLLHLARPKAQSDKCVPDRDPRWEVLDVTKKVVASPRIISLAKPKVRKGLNEGYDRRPLASMSLPPPKASPEKCDQPRPGL
UniProt ID: Q9P2T0
Variant: H -> Y at position 297-297
Variant annotation: in dbSNP:rs10422863
Protein function: May be involved (but not essential) in spermatogenesis.
Reference sequence:
MGDSRRRSLGNQPSSEAAGRSEREQDGDPRGLQSSVYESRRVTDPERQDLDNAELGPEDPEEELPPEEVAGEEFPETLDPKEALSELERVLDKDLEEDIPEISRLSISQKLPSTTMTKARKRRRRRRLMELAEPKINWQVLKDRKGRCGKGYAWISPCKMSLHFCLCWPSVYWTERFLEDTTLTITVPAVSRRVEELSRPKRFYLEYYNNNRTTPVWPIPRSSLEYRASSRLKELAAPKIRDNFWSMPMSEVSQVSRAAQMAVPSSRILQLSKPKAPATLLEEWDPVPKPKPHVSDHNRLLHLARPKAQSDKCVPDRDPRWEVLDVTKKVVASPRIISLAKPKVRKGLNEGYDRRPLASMSLPPPKASPEKCDQPRPGL
UniProt ID: Q9P2T0
Variant: D -> N at position 353-353
Variant annotation: in dbSNP:rs3764656
Protein function: May be involved (but not essential) in spermatogenesis.
Reference sequence:
MGDSRRRSLGNQPSSEAAGRSEREQDGDPRGLQSSVYESRRVTDPERQDLDNAELGPEDPEEELPPEEVAGEEFPETLDPKEALSELERVLDKDLEEDIPEISRLSISQKLPSTTMTKARKRRRRRRLMELAEPKINWQVLKDRKGRCGKGYAWISPCKMSLHFCLCWPSVYWTERFLEDTTLTITVPAVSRRVEELSRPKRFYLEYYNNNRTTPVWPIPRSSLEYRASSRLKELAAPKIRDNFWSMPMSEVSQVSRAAQMAVPSSRILQLSKPKAPATLLEEWDPVPKPKPHVSDHNRLLHLARPKAQSDKCVPDRDPRWEVLDVTKKVVASPRIISLAKPKVRKGLNEGYDRRPLASMSLPPPKASPEKCDQPRPGL
UniProt ID: Q9P2W7
Variant: A -> T at position 131-131
Variant annotation: in dbSNP:rs35434644
Protein function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group.
Reference sequence:
MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPRRETPPGADPREYCTSDRDIVEVVRTEYVYTRPPPWSDTLPTIHVVTPTYSRPVQKAELTRMANTLLHVPNLHWLVVEDAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARDPRIPRGTMQRNLALRWLRETFPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWPVAFVGGLRYEAPRVNGAGKVVGWKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLRGVKGGYQESSLLRELVTLNDLEPKAANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI
UniProt ID: Q9P2W9
Variant: D -> Y at position 32-32
Variant annotation: in dbSNP:rs13134070
Protein function: Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.
Reference sequence:
MAVDITLLFRASVKTVKTRNKALGVAVGGGVDGSRDELFRRSPRPKGDFSSRAREVISHIGKLRDFLLEHRKDYINAYSHTMSEYGRMTDTERDQIDQDAQIFMRTCSEAIQQLRTEAHKEIHSQQVKEHRTAVLDFIEDYLKRVCKLYSEQRAIRVKRVVDKKRLSKLEPEPNTKTRESTSSEKVSQSPSKDSEENPATEERPEKILAETQPELGTWGDGKGEDELSPEEIQMFEQENQRLIGEMNSLFDEVRQIEGRVVEISRLQEIFTEKVLQQEAEIDSIHQLVVGATENIKEGNEDIREAIKNNAGFRVWILFFLVMCSFSLLFLDWYDS
UniProt ID: Q9P2W9
Variant: S -> G at position 51-51
Variant annotation: in dbSNP:rs36109375
Protein function: Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.
Reference sequence:
MAVDITLLFRASVKTVKTRNKALGVAVGGGVDGSRDELFRRSPRPKGDFSSRAREVISHIGKLRDFLLEHRKDYINAYSHTMSEYGRMTDTERDQIDQDAQIFMRTCSEAIQQLRTEAHKEIHSQQVKEHRTAVLDFIEDYLKRVCKLYSEQRAIRVKRVVDKKRLSKLEPEPNTKTRESTSSEKVSQSPSKDSEENPATEERPEKILAETQPELGTWGDGKGEDELSPEEIQMFEQENQRLIGEMNSLFDEVRQIEGRVVEISRLQEIFTEKVLQQEAEIDSIHQLVVGATENIKEGNEDIREAIKNNAGFRVWILFFLVMCSFSLLFLDWYDS
UniProt ID: Q9P2W9
Variant: S -> T at position 228-228
Variant annotation: in dbSNP:rs33952588
Protein function: Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.
Reference sequence:
MAVDITLLFRASVKTVKTRNKALGVAVGGGVDGSRDELFRRSPRPKGDFSSRAREVISHIGKLRDFLLEHRKDYINAYSHTMSEYGRMTDTERDQIDQDAQIFMRTCSEAIQQLRTEAHKEIHSQQVKEHRTAVLDFIEDYLKRVCKLYSEQRAIRVKRVVDKKRLSKLEPEPNTKTRESTSSEKVSQSPSKDSEENPATEERPEKILAETQPELGTWGDGKGEDELSPEEIQMFEQENQRLIGEMNSLFDEVRQIEGRVVEISRLQEIFTEKVLQQEAEIDSIHQLVVGATENIKEGNEDIREAIKNNAGFRVWILFFLVMCSFSLLFLDWYDS
UniProt ID: Q9P2X0
Variant: L -> P at position 14-14
Variant annotation: in MDDGC15; uncertain significance; dbSNP:rs778481307
Protein function: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.
Reference sequence:
MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
UniProt ID: Q9P2X0
Variant: P -> A at position 42-42
Variant annotation: in MDDGB15; uncertain significance; dbSNP:rs745692004
Protein function: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.
Reference sequence:
MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
UniProt ID: Q9P2X0
Variant: L -> S at position 85-85
Variant annotation: in MDDGC15; when transfected into DPM3-deficient cells, only slightly restores dolichol-phosphate mannose synthase activity contrary to wild-type DPM3; reduced interaction with DPM1; dbSNP:rs121908155
Protein function: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.
Reference sequence:
MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
UniProt ID: Q9P2X3
Variant: A -> V at position 74-74
Variant annotation: in dbSNP:rs544203385
Protein function: Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.
Reference sequence:
MAEGDAGSDQRQNEEIEAMAAIYGEEWCVIDDCAKIFCIRISDDIDDPKWTLCLQVMLPNEYPGTAPPIYQLNAPWLKGQERADLSNSLEEIYIQNIGESILYLWVEKIRDVLIQKSQMTEPGPDVKKKTEEEDVECEDDLILACQPESSLKALDFDISETRTEVEVEELPPIDHGIPITDRRSTFQAHLAPVVCPKQVKMVLSKLYENKKIASATHNIYAYRIYCEDKQTFLQDCEDDGETAAGGRLLHLMEILNVKNVMVVVSRWYGGILLGPDRFKHINNCARNILVEKNYTNSPEESSKALGKNKKVRKDKKRNEH
UniProt ID: Q9P2X3
Variant: D -> E at position 125-125
Variant annotation: in dbSNP:rs582234
Protein function: Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.
Reference sequence:
MAEGDAGSDQRQNEEIEAMAAIYGEEWCVIDDCAKIFCIRISDDIDDPKWTLCLQVMLPNEYPGTAPPIYQLNAPWLKGQERADLSNSLEEIYIQNIGESILYLWVEKIRDVLIQKSQMTEPGPDVKKKTEEEDVECEDDLILACQPESSLKALDFDISETRTEVEVEELPPIDHGIPITDRRSTFQAHLAPVVCPKQVKMVLSKLYENKKIASATHNIYAYRIYCEDKQTFLQDCEDDGETAAGGRLLHLMEILNVKNVMVVVSRWYGGILLGPDRFKHINNCARNILVEKNYTNSPEESSKALGKNKKVRKDKKRNEH
UniProt ID: Q9P2X3
Variant: L -> V at position 151-151
Variant annotation: in dbSNP:rs677688
Protein function: Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.
Reference sequence:
MAEGDAGSDQRQNEEIEAMAAIYGEEWCVIDDCAKIFCIRISDDIDDPKWTLCLQVMLPNEYPGTAPPIYQLNAPWLKGQERADLSNSLEEIYIQNIGESILYLWVEKIRDVLIQKSQMTEPGPDVKKKTEEEDVECEDDLILACQPESSLKALDFDISETRTEVEVEELPPIDHGIPITDRRSTFQAHLAPVVCPKQVKMVLSKLYENKKIASATHNIYAYRIYCEDKQTFLQDCEDDGETAAGGRLLHLMEILNVKNVMVVVSRWYGGILLGPDRFKHINNCARNILVEKNYTNSPEESSKALGKNKKVRKDKKRNEH
UniProt ID: Q9P2X7
Variant: A -> V at position 60-60
Variant annotation: in dbSNP:rs2269700
Protein function: Candidate tumor suppressor.
Reference sequence:
MTMNVLEAGKWKSIVPAPGEGLLAVLHMMVFTDALHRERSVKWQAGVCYNGGKDFAVSLARPKAAEGIAD
UniProt ID: Q9PMQ9
Variant: I -> V at position 132-132
Variant annotation: in strain: F38011
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: T -> A at position 254-254
Variant annotation: in strain: F38011 and M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: F -> L at position 258-258
Variant annotation: in strain: M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: M -> I at position 291-291
Variant annotation: in strain: M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: S -> N at position 469-469
Variant annotation: in strain: M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: Q -> K at position 500-500
Variant annotation: in strain: F38011 and M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN
UniProt ID: Q9PMQ9
Variant: L -> F at position 605-605
Variant annotation: in strain: M129
Protein function: Probable transporter of a GTP-driven Fe(2+) uptake system across the cell inner membrane into the cytoplasm, shown for strain NCTC 11168 .
Reference sequence:
MKKIKIALVGQPNVGKSLLINALCKANMKVGNFSGVTIEKASAKTFYKNYEFEVIDLPGTYSLDGYSEEEKITRHFLNQNDYDVIVNVLDATNLERNLILSAELLSLNKKMLLALNMCDEAKKEGIELDTSILSQEFQSQVVEISAKTKENLELLLQKIIILFESKFIPRSQFYTPLCEKSPEKEDLLYFINELSKKIITHKKEERNLTKKIDALLIHKFFGLPIFLFLMWLLFQLTFSLGQIPMDYIESGFNTLGEFVKNNISNTFIASALADGIIAGVGAVILFLPNIMILFLGIALLETTGYMSRVAFLLDGILHKFGLHGKSFIPLITGFGCSVPAFMATRTLKNKRDRLLTLFVINFMSCGARLPVYVLFIGAFFPSEKAGNYLFGIYILGAILGLCAAKFLRMTAFRGLDEPFVMEMPKYRMPNWHLVWFMVYNKAKMYLKKAGTFILLASLLIWFASNFPKSEENLNDFNAQERAIEQSYLGQFGKGIEPIFQPLELDWKLSVSLISGLAAKEVMISTMGVLYSLGKDVDETNNDLKGIIAKNIPIPSAVAFILFVMIYNPCFAATIVFSKESGKLKYTLFLFLFTCTSAYIVAFIGLHIAKILLN