sujigwak/NVAR huggingface dataset:
UniProt ID: Q04912
Variant: R -> G at position 1335-1335
Variant annotation: in dbSNP:rs1062633
Protein function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. RON signaling activates the wound healing response by promoting epithelial cell migration, proliferation as well as survival at the wound site. Also plays a role in the innate immune response by regulating the migration and phagocytic activity of macrophages. Alternatively, RON can also promote signals such as cell migration and proliferation in response to growth factors other than MST1 ligand.
Reference sequence:
MELLPPLPQSFLLLLLLPAKPAAGEDWQCPRTPYAASRDFDVKYVVPSFSAGGLVQAMVTYEGDRNESAVFVAIRNRLHVLGPDLKSVQSLATGPAGDPGCQTCAACGPGPHGPPGDTDTKVLVLDPALPALVSCGSSLQGRCFLHDLEPQGTAVHLAAPACLFSAHHNRPDDCPDCVASPLGTRVTVVEQGQASYFYVASSLDAAVAASFSPRSVSIRRLKADASGFAPGFVALSVLPKHLVSYSIEYVHSFHTGAFVYFLTVQPASVTDDPSALHTRLARLSATEPELGDYRELVLDCRFAPKRRRRGAPEGGQPYPVLRVAHSAPVGAQLATELSIAEGQEVLFGVFVTGKDGGPGVGPNSVVCAFPIDLLDTLIDEGVERCCESPVHPGLRRGLDFFQSPSFCPNPPGLEALSPNTSCRHFPLLVSSSFSRVDLFNGLLGPVQVTALYVTRLDNVTVAHMGTMDGRILQVELVRSLNYLLYVSNFSLGDSGQPVQRDVSRLGDHLLFASGDQVFQVPIQGPGCRHFLTCGRCLRAWHFMGCGWCGNMCGQQKECPGSWQQDHCPPKLTEFHPHSGPLRGSTRLTLCGSNFYLHPSGLVPEGTHQVTVGQSPCRPLPKDSSKLRPVPRKDFVEEFECELEPLGTQAVGPTNVSLTVTNMPPGKHFRVDGTSVLRGFSFMEPVLIAVQPLFGPRAGGTCLTLEGQSLSVGTSRAVLVNGTECLLARVSEGQLLCATPPGATVASVPLSLQVGGAQVPGSWTFQYREDPVVLSISPNCGYINSHITICGQHLTSAWHLVLSFHDGLRAVESRCERQLPEQQLCRLPEYVVRDPQGWVAGNLSARGDGAAGFTLPGFRFLPPPHPPSANLVPLKPEEHAIKFEYIGLGAVADCVGINVTVGGESCQHEFRGDMVVCPLPPSLQLGQDGAPLQVCVDGECHILGRVVRPGPDGVPQSTLLGILLPLLLLVAALATALVFSYWWRRKQLVLPPNLNDLASLDQTAGATPLPILYSGSDYRSGLALPAIDGLDSTTCVHGASFSDSEDESCVPLLRKESIQLRDLDSALLAEVKDVLIPHERVVTHSDRVIGKGHFGVVYHGEYIDQAQNRIQCAIKSLSRITEMQQVEAFLREGLLMRGLNHPNVLALIGIMLPPEGLPHVLLPYMCHGDLLQFIRSPQRNPTVKDLISFGLQVARGMEYLAEQKFVHRDLAARNCMLDESFTVKVADFGLARDILDREYYSVQQHRHARLPVKWMALESLQTYRFTTKSDVWSFGVLLWELLTRGAPPYRHIDPFDLTHFLAQGRRLPQPEYCPDSLYQVMQQCWEADPAVRPTFRVLVGEVEQIVSALLGDHYVQLPATYMNLGPSTSHEMNVRPEQPQFSPMPGNVRRPRPLSEPPRPT
UniProt ID: Q04912
Variant: Y -> C at position 1360-1360
Variant annotation: in dbSNP:rs56330223
Protein function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. RON signaling activates the wound healing response by promoting epithelial cell migration, proliferation as well as survival at the wound site. Also plays a role in the innate immune response by regulating the migration and phagocytic activity of macrophages. Alternatively, RON can also promote signals such as cell migration and proliferation in response to growth factors other than MST1 ligand.
Reference sequence:
MELLPPLPQSFLLLLLLPAKPAAGEDWQCPRTPYAASRDFDVKYVVPSFSAGGLVQAMVTYEGDRNESAVFVAIRNRLHVLGPDLKSVQSLATGPAGDPGCQTCAACGPGPHGPPGDTDTKVLVLDPALPALVSCGSSLQGRCFLHDLEPQGTAVHLAAPACLFSAHHNRPDDCPDCVASPLGTRVTVVEQGQASYFYVASSLDAAVAASFSPRSVSIRRLKADASGFAPGFVALSVLPKHLVSYSIEYVHSFHTGAFVYFLTVQPASVTDDPSALHTRLARLSATEPELGDYRELVLDCRFAPKRRRRGAPEGGQPYPVLRVAHSAPVGAQLATELSIAEGQEVLFGVFVTGKDGGPGVGPNSVVCAFPIDLLDTLIDEGVERCCESPVHPGLRRGLDFFQSPSFCPNPPGLEALSPNTSCRHFPLLVSSSFSRVDLFNGLLGPVQVTALYVTRLDNVTVAHMGTMDGRILQVELVRSLNYLLYVSNFSLGDSGQPVQRDVSRLGDHLLFASGDQVFQVPIQGPGCRHFLTCGRCLRAWHFMGCGWCGNMCGQQKECPGSWQQDHCPPKLTEFHPHSGPLRGSTRLTLCGSNFYLHPSGLVPEGTHQVTVGQSPCRPLPKDSSKLRPVPRKDFVEEFECELEPLGTQAVGPTNVSLTVTNMPPGKHFRVDGTSVLRGFSFMEPVLIAVQPLFGPRAGGTCLTLEGQSLSVGTSRAVLVNGTECLLARVSEGQLLCATPPGATVASVPLSLQVGGAQVPGSWTFQYREDPVVLSISPNCGYINSHITICGQHLTSAWHLVLSFHDGLRAVESRCERQLPEQQLCRLPEYVVRDPQGWVAGNLSARGDGAAGFTLPGFRFLPPPHPPSANLVPLKPEEHAIKFEYIGLGAVADCVGINVTVGGESCQHEFRGDMVVCPLPPSLQLGQDGAPLQVCVDGECHILGRVVRPGPDGVPQSTLLGILLPLLLLVAALATALVFSYWWRRKQLVLPPNLNDLASLDQTAGATPLPILYSGSDYRSGLALPAIDGLDSTTCVHGASFSDSEDESCVPLLRKESIQLRDLDSALLAEVKDVLIPHERVVTHSDRVIGKGHFGVVYHGEYIDQAQNRIQCAIKSLSRITEMQQVEAFLREGLLMRGLNHPNVLALIGIMLPPEGLPHVLLPYMCHGDLLQFIRSPQRNPTVKDLISFGLQVARGMEYLAEQKFVHRDLAARNCMLDESFTVKVADFGLARDILDREYYSVQQHRHARLPVKWMALESLQTYRFTTKSDVWSFGVLLWELLTRGAPPYRHIDPFDLTHFLAQGRRLPQPEYCPDSLYQVMQQCWEADPAVRPTFRVLVGEVEQIVSALLGDHYVQLPATYMNLGPSTSHEMNVRPEQPQFSPMPGNVRRPRPLSEPPRPT
UniProt ID: Q04939
Variant: Y -> C at position 27-27
Variant annotation: in strain: NIZOR5
Protein function: This protein may control the expression of the genes that are involved in the transport and catabolism of sucrose.
Reference sequence:
MIKLEDVANKAGVSVTTVSRVINRKGYLSDATISKVEKAMQDLHYIPNAAARSLQGKSLKLIGLVFPTIKNIFYAELIEKIEQALFIRGYKAMLATTEHDEQKERDYLALLLSNQVDGIIYGSHNLKAHDYIAIEAPIVAFDRLLTPETTVVSSDNFEGGILATKALINSGSKKIAIFTGNDNTNSPTYLRRDGYLLELERNQLKTHIIKIPSQWTLLRKKVEIKKILENNDFDGVFCTDDLTAILVKDLASNLKKSLNVVGFDGTEFIENYYPNLTTIKQPINDLAELLVDLIIRKIDGDNIDITYQLPVQLHYGID
UniProt ID: Q04941
Variant: A -> S at position 91-91
Variant annotation: in dbSNP:rs1802969
Protein function: May play a role in cell differentiation in the intestinal epithelium.
Reference sequence:
MADSERLSAPGCWAACTNFSRTRKGILLFAEIILCLVILICFSASTPGYSSLSVIEMILAAIFFVVYMCDLHTKIPFINWPWSDFFRTLIAAILYLITSIVVLVERGNHSKIVAGVLGLIATCLFGYDAYVTFPVRQPRHTAAPTDPADGPV
UniProt ID: Q05018
Variant: P -> T at position 30-30
Variant annotation: in allele A:2
Protein function: Used by the larvae to construct a supramolecular structure, the larval tube.
Reference sequence:
MRIKFLVVLAVICLFAHYASASGMGGDKKPKDAPKPKDAPKPKEVKPVKAESSEYEIEVIKHQKEKTEKKEKEKKTHVETKKEVKKKEKKQIPCSEKLKDEKLDCETKGVPAGYKAIFKFTENEECDWTCDYEALPPPPGAKKDDKKEKKTVKVVKPPKEKPPKKLRKECSGEKVIKFQNCLVKIRGLIAFGDKTKNFDKKFAKLVQGKQKKGAKKAKGGKKAAPKPGPKPGPKQADKPKDAKK
UniProt ID: Q05018
Variant: P -> PKPKEEP at position 40-40
Variant annotation: in allele A:2
Protein function: Used by the larvae to construct a supramolecular structure, the larval tube.
Reference sequence:
MRIKFLVVLAVICLFAHYASASGMGGDKKPKDAPKPKDAPKPKEVKPVKAESSEYEIEVIKHQKEKTEKKEKEKKTHVETKKEVKKKEKKQIPCSEKLKDEKLDCETKGVPAGYKAIFKFTENEECDWTCDYEALPPPPGAKKDDKKEKKTVKVVKPPKEKPPKKLRKECSGEKVIKFQNCLVKIRGLIAFGDKTKNFDKKFAKLVQGKQKKGAKKAKGGKKAAPKPGPKPGPKQADKPKDAKK
UniProt ID: Q05018
Variant: L -> P at position 166-166
Variant annotation: in allele A:2
Protein function: Used by the larvae to construct a supramolecular structure, the larval tube.
Reference sequence:
MRIKFLVVLAVICLFAHYASASGMGGDKKPKDAPKPKDAPKPKEVKPVKAESSEYEIEVIKHQKEKTEKKEKEKKTHVETKKEVKKKEKKQIPCSEKLKDEKLDCETKGVPAGYKAIFKFTENEECDWTCDYEALPPPPGAKKDDKKEKKTVKVVKPPKEKPPKKLRKECSGEKVIKFQNCLVKIRGLIAFGDKTKNFDKKFAKLVQGKQKKGAKKAKGGKKAAPKPGPKPGPKQADKPKDAKK
UniProt ID: Q05047
Variant: I -> L at position 190-190
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: Q -> E at position 194-194
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: E -> D at position 223-223
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: K -> R at position 312-312
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: S -> T at position 318-318
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: V -> I at position 403-403
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: K -> E at position 405-405
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05047
Variant: S -> P at position 411-411
Protein function: Component of the seco-iridoid and derivatives monoterpenoid indole alkaloids (MIAs, e.g. secologanin) biosynthesis pathway. Catalyzes the conversion of loganin into secologanin . Catalyzes the conversion of secologanin into secoxyloganin .
Reference sequence:
MEMDMDTIRKAIAATIFALVMAWAWRVLDWAWFTPKRIEKRLRQQGFRGNPYRFLVGDVKESGKMHQEALSKPMEFNNDIVPRLMPHINHTINTYGRNSFTWMGRIPRIHVMEPELIKEVLTHSSKYQKNFDVHNPLVKFLLTGVGSFEGAKWSKHRRIISPAFTLEKLKSMLPAFAICYHDMLTKWEKIAEKQGSHEVDIFPTFDVLTSDVISKVAFGSTYEEGGKIFRLLKELMDLTIDCMRDVYIPGWSYLPTKRNKRMKEINKEITDMLRFIINKRMKALKAGEPGEDDLLGVLLESNIQEIQKQGNKKDGGMSINDVIEECKLFYFAGQETTGVLLTWTTILLSKHPEWQERAREEVLQAFGKNKPEFERLNHLKYVSMILYEVLRLYPPVIDLTKIVHKDTKLGSYTIPAGTQVMLPTVMLHREKSIWGEDAMEFNPMRFVDGVANATKNNVTYLPFSWGPRVCLGQNFALLQAKLGLAMILQRFKFDVAPSYVHAPFTILTVQPQFGSHVIYKKLES
UniProt ID: Q05049
Variant: K -> E at position 276-276
Protein function: Could be involved in defense against microbial infections. Protects the epithelia from external environment.
Reference sequence:
APTTAAAVAATGKDTTAAAEGSAAAEKTAAAGEVSAPPTAAVAATGEDATTAAATAAAETTAAAGEAPTTTTAPATTAAGKAPTTAAATAPTTAAAGAPTTATGKAPATAAAPVPTTAASKAPTTAAAATHSTAAAAAPTTAASAAKSKERSTSSSSEEEHCHVKPSKREMCGSKGITKKQCKKKNCCFDPKGHGGIHCFHRKPKGHSHEEHTTTTTKAPTTIQIATTTTTPTTTTTTTKATPTTTTTTKATPTTTTTTKATTTTTTPTTTTTTTKATTTPTTTTTTTPTTTTTKATTTTTTTSGECKMEPSKREDCGYSGITESQCRTKGCCFDSSIPQTKWCFYTLSQVADCKVEPSQRVDCGFRGITADQCRQKNCCFDSSISGTKWCFYSTSQVAATKTTTTPTTTTTPTTTTTTKATTTTPTTTTTTPTTTTTTTTTTKATTTTPTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTTTTTKATTTTTSGECKMEPSKRADCGYPGITESQCRSKGCCFDSSIPQTKWCFYSLPQVADCKVAPSSRVDCGFGGITADQCRQRNCCFDSSISGTKWCFYSTSQGNAMCSGPPTKRRDCGYPGISSSVCINRGCCWDNSVMNVPWCFYRT
UniProt ID: Q05049
Variant: C -> R at position 354-354
Protein function: Could be involved in defense against microbial infections. Protects the epithelia from external environment.
Reference sequence:
APTTAAAVAATGKDTTAAAEGSAAAEKTAAAGEVSAPPTAAVAATGEDATTAAATAAAETTAAAGEAPTTTTAPATTAAGKAPTTAAATAPTTAAAGAPTTATGKAPATAAAPVPTTAASKAPTTAAAATHSTAAAAAPTTAASAAKSKERSTSSSSEEEHCHVKPSKREMCGSKGITKKQCKKKNCCFDPKGHGGIHCFHRKPKGHSHEEHTTTTTKAPTTIQIATTTTTPTTTTTTTKATPTTTTTTKATPTTTTTTKATTTTTTPTTTTTTTKATTTPTTTTTTTPTTTTTKATTTTTTTSGECKMEPSKREDCGYSGITESQCRTKGCCFDSSIPQTKWCFYTLSQVADCKVEPSQRVDCGFRGITADQCRQKNCCFDSSISGTKWCFYSTSQVAATKTTTTPTTTTTPTTTTTTKATTTTPTTTTTTPTTTTTTTTTTKATTTTPTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTTTTTKATTTTTSGECKMEPSKRADCGYPGITESQCRSKGCCFDSSIPQTKWCFYSLPQVADCKVAPSSRVDCGFGGITADQCRQRNCCFDSSISGTKWCFYSTSQGNAMCSGPPTKRRDCGYPGISSSVCINRGCCWDNSVMNVPWCFYRT
UniProt ID: Q05049
Variant: T -> A at position 415-415
Protein function: Could be involved in defense against microbial infections. Protects the epithelia from external environment.
Reference sequence:
APTTAAAVAATGKDTTAAAEGSAAAEKTAAAGEVSAPPTAAVAATGEDATTAAATAAAETTAAAGEAPTTTTAPATTAAGKAPTTAAATAPTTAAAGAPTTATGKAPATAAAPVPTTAASKAPTTAAAATHSTAAAAAPTTAASAAKSKERSTSSSSEEEHCHVKPSKREMCGSKGITKKQCKKKNCCFDPKGHGGIHCFHRKPKGHSHEEHTTTTTKAPTTIQIATTTTTPTTTTTTTKATPTTTTTTKATPTTTTTTKATTTTTTPTTTTTTTKATTTPTTTTTTTPTTTTTKATTTTTTTSGECKMEPSKREDCGYSGITESQCRTKGCCFDSSIPQTKWCFYTLSQVADCKVEPSQRVDCGFRGITADQCRQKNCCFDSSISGTKWCFYSTSQVAATKTTTTPTTTTTPTTTTTTKATTTTPTTTTTTPTTTTTTTTTTKATTTTPTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTPTTTTTKATTTTPTTTTTTTTTTKATTTTTSGECKMEPSKRADCGYPGITESQCRSKGCCFDSSIPQTKWCFYSLPQVADCKVAPSSRVDCGFGGITADQCRQRNCCFDSSISGTKWCFYSTSQGNAMCSGPPTKRRDCGYPGISSSVCINRGCCWDNSVMNVPWCFYRT
UniProt ID: Q05187
Variant: G -> R at position 452-452
Protein function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
Reference sequence:
MYGFGRGNMFRNRSTRYRRRPRYRAENYHSYMLDLLENMNEEFGRNWWGTPESHQPDSGPSSLQVESVELYTRDNAREHNTFMYDLVDGTKPVLILRRGQPFSIAIRFKRNYNPQQDRLKLEIGFGQQPLITKGTLIMLPVSGSDTFTKDKTQWDVRLRQHDGAVITLEIQIPAAVAVGVWKMKIVSQLTSEEQPNVSAVTHECKNKTYILFNPWCKQDSVYMEDEQWRKEYVLSDVGKIFTGSFKQPVGRRWIFGQFTDSVLPACMLILERSGLDYTARSNPIKVVRAISAMVNNIDDEGVLEGRWQEPYDDGVAPWMWTGSSAILEKYLKTRGVPVKYGQCWVFAGVANTVSRALGIPSRTVTNYDSAHDTDDTLTIDKWFDKNGDKIEDATSDSIWNFHVWNDCWMARPDLPTGYGGWQAYDSTPQETSEGVYQTGPASVLAVQRGEIGYMFDSPFVFSEVNADVVHWQEDDSSETGYKKLKIDSYRVGRLLLTKKIGVDDDFGDADAEDITDQYKNKEGTDEERMSVLNAARSSGFNYAFNLPSPEKEDVYFNLLDIEKIKIGQPFHVTVNIENQSSETRRVSAVLSASSIYYTGITGRKIKRENGNFSLQPHQKEVLSIEVTPDEYLEKLVDYAMIKLYAIATVKETQQTWSEEDDFMVEKPNLELEIRGNLQVGTAFVLAISLTNPLKRVLDNCFFTIEAPGVTGAFRVTNRDIQPEEVAVHTVRLIPQKPGPRKIVATFSSRQLIQVVGSKQVEVLD
UniProt ID: Q05187
Variant: S -> C at position 477-477
Protein function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
Reference sequence:
MYGFGRGNMFRNRSTRYRRRPRYRAENYHSYMLDLLENMNEEFGRNWWGTPESHQPDSGPSSLQVESVELYTRDNAREHNTFMYDLVDGTKPVLILRRGQPFSIAIRFKRNYNPQQDRLKLEIGFGQQPLITKGTLIMLPVSGSDTFTKDKTQWDVRLRQHDGAVITLEIQIPAAVAVGVWKMKIVSQLTSEEQPNVSAVTHECKNKTYILFNPWCKQDSVYMEDEQWRKEYVLSDVGKIFTGSFKQPVGRRWIFGQFTDSVLPACMLILERSGLDYTARSNPIKVVRAISAMVNNIDDEGVLEGRWQEPYDDGVAPWMWTGSSAILEKYLKTRGVPVKYGQCWVFAGVANTVSRALGIPSRTVTNYDSAHDTDDTLTIDKWFDKNGDKIEDATSDSIWNFHVWNDCWMARPDLPTGYGGWQAYDSTPQETSEGVYQTGPASVLAVQRGEIGYMFDSPFVFSEVNADVVHWQEDDSSETGYKKLKIDSYRVGRLLLTKKIGVDDDFGDADAEDITDQYKNKEGTDEERMSVLNAARSSGFNYAFNLPSPEKEDVYFNLLDIEKIKIGQPFHVTVNIENQSSETRRVSAVLSASSIYYTGITGRKIKRENGNFSLQPHQKEVLSIEVTPDEYLEKLVDYAMIKLYAIATVKETQQTWSEEDDFMVEKPNLELEIRGNLQVGTAFVLAISLTNPLKRVLDNCFFTIEAPGVTGAFRVTNRDIQPEEVAVHTVRLIPQKPGPRKIVATFSSRQLIQVVGSKQVEVLD
UniProt ID: Q05187
Variant: I -> S at position 486-486
Protein function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
Reference sequence:
MYGFGRGNMFRNRSTRYRRRPRYRAENYHSYMLDLLENMNEEFGRNWWGTPESHQPDSGPSSLQVESVELYTRDNAREHNTFMYDLVDGTKPVLILRRGQPFSIAIRFKRNYNPQQDRLKLEIGFGQQPLITKGTLIMLPVSGSDTFTKDKTQWDVRLRQHDGAVITLEIQIPAAVAVGVWKMKIVSQLTSEEQPNVSAVTHECKNKTYILFNPWCKQDSVYMEDEQWRKEYVLSDVGKIFTGSFKQPVGRRWIFGQFTDSVLPACMLILERSGLDYTARSNPIKVVRAISAMVNNIDDEGVLEGRWQEPYDDGVAPWMWTGSSAILEKYLKTRGVPVKYGQCWVFAGVANTVSRALGIPSRTVTNYDSAHDTDDTLTIDKWFDKNGDKIEDATSDSIWNFHVWNDCWMARPDLPTGYGGWQAYDSTPQETSEGVYQTGPASVLAVQRGEIGYMFDSPFVFSEVNADVVHWQEDDSSETGYKKLKIDSYRVGRLLLTKKIGVDDDFGDADAEDITDQYKNKEGTDEERMSVLNAARSSGFNYAFNLPSPEKEDVYFNLLDIEKIKIGQPFHVTVNIENQSSETRRVSAVLSASSIYYTGITGRKIKRENGNFSLQPHQKEVLSIEVTPDEYLEKLVDYAMIKLYAIATVKETQQTWSEEDDFMVEKPNLELEIRGNLQVGTAFVLAISLTNPLKRVLDNCFFTIEAPGVTGAFRVTNRDIQPEEVAVHTVRLIPQKPGPRKIVATFSSRQLIQVVGSKQVEVLD
UniProt ID: Q05209
Variant: K -> R at position 61-61
Variant annotation: in colon cancer; dbSNP:rs121434623
Protein function: Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades . Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 . Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' .
Reference sequence:
MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFMRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVIDFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSSFDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFEKQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDNDRYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKISKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKTVSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNIAGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSDKREQISENPTEATDIGFGNRCGKPKGPRDPPSEWT
UniProt ID: Q05209
Variant: V -> I at position 322-322
Variant annotation: in dbSNP:rs9640663
Protein function: Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades . Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 . Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' .
Reference sequence:
MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFMRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVIDFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSSFDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFEKQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDNDRYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKISKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKTVSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNIAGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSDKREQISENPTEATDIGFGNRCGKPKGPRDPPSEWT
UniProt ID: Q05209
Variant: T -> A at position 573-573
Variant annotation: in dbSNP:rs3750050
Protein function: Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades . Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 . Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' .
Reference sequence:
MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFMRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVIDFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSSFDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFEKQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDNDRYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKISKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKTVSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNIAGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSDKREQISENPTEATDIGFGNRCGKPKGPRDPPSEWT