sujigwak/NVAR huggingface dataset:
UniProt ID: Q9TUZ0
Variant: C -> Y at position 392-392
Protein function: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
Reference sequence:
MAVWIQAQQLQGDALHQMQALYGQHFPIEVRHYLSQWIESQAWDSIDLDNPQENIKATQLLEGLVQELQKKAEHQVGEDGFLLKIKLGHYATQLQNTYDRCPMELVRCIRHILYNEQRLVREANNGTSPAGSLADAMSQKHLQINQTFEELRPVTQDTENELKKLQQTQEYFIIQYQESLRIQAQFAQLAQLNPQERLSRETALQQKQVTLEAWLQREAQTLQQYRVELAEKHQKTLQLLRKQQTIILDDELIQWKRRQQLAGNGGPPEGSLDVLQSWCEKLAEIIWQNRQQIRRAEHLCQQLPIPGPVEEMLAEVNATITDIISALVTSTFIIEKQPPQVLKTQTKFAATVRLLVGGKLNVHMNPPQVKATIISEQRAKSLLKNESTRNDCSGEILNNCCVMEYHQATGTLSAHFRNMSLKRIKRSDRRGAESVTEEKFTILFESQFSVGGNELVFQVKTLSLPVVVIVHGSQDNNATATVLWDNAFAEPGRVPFAVPDKVLWPQLCEALNMKFKAEVQSNRGLTKENLVFLAQKLFNSSSSHLEDYSGMSVSWSQFNRENLPGRNYTFWQWFDGVMEVLKKHLKPHWNDGAILGFVNKQQAHDLLINKPDGTFLLRFSDSEIGGITIAWKFDSQERMFWNLMPFTTRDFSIRSLADRLGDLNYLIYVFPDRPKDEVYSKYYTPVPCEPATAKAVDGYVKPQIKQVVPEFVSASSDSAGGNATYMDQAPSPAVCPQAHYSIYPQNPDPVLDNDGDFDLDDTMDVARRVEELLGRPMDSQWIPHAQS
UniProt ID: Q9U8Q1
Variant: T -> I at position 27-27
Variant annotation: in strain: QS4, QS8, QS9, QS11, QS15, QS18, QS21, QS23, QS32, QS34, QS36, QS38 and QS113
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: I -> V at position 247-247
Variant annotation: in strain: QS4, QS8, QS9, QS11, QS15, QS18, QS21, QS23, QS32, QS34, QS36, QS38 and QS113
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: P -> L at position 359-359
Variant annotation: in strain: QS113
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: N -> I at position 424-424
Variant annotation: in strain: QS23
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: V -> I at position 455-455
Variant annotation: in strain: QS8, QS9, QS11, QS15, QS21 and QS34
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: Y -> N at position 591-591
Variant annotation: in strain: QS8, QS9, QS11, QS15, QS21 and QS34
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9U8Q1
Variant: K -> Q at position 892-892
Variant annotation: in strain: QS4, QS21, QS23, QS32, QS34 and QS113
Protein function: May be involved in the regulation of aggregation. Activates tgrC1.
Reference sequence:
MIHKMYFFLILLFSLFIIVYSAPNRVTRNETSIVYTYSLDSDYYTRFVMYLNATTLRTDIAPNYFDCSQIVNSERYCVFHFADSFSRLWGAVYSRVCTRTVSDPTEDCQSTWITDNAFPEPLNVKFSGYPSTSGGDVVFTGLFLRLAGGPNTLANSFTNPSKTFLIKVHGNFSDPNFNCNNFTATFPPSSGYIKVYFDDTGKSSLQLRYASPTVSSFILDESKKLVTINGDNYFTKNSLVQVFFDGIIQNNINITVNHSQIQVNNFIRVDPGPMSVNITINAVSIDNNYTYCFPAVISSISSVSNHLGGVVTIKGSKLSSTSIIPTIKIGDKQCTFIKSTTTELECQLEPNETGGKHLPVDVNFGGCNSTSSGSDAVTFTYSIPTLSSGTLSNGIVTLIGTNLGTINDSFIQLNSNGAIDNVKNDQFNISSDETTATFKLPLLKCKSFYINFTRVDISANNKPSISAPLLIYVINKPTVSNGSINIELYYIDCPISPSSTPSITVGNSSSATQCSIPSLKNLSEYYQTTCSIPYGTGTNKQFKFKYNSEESNSEFSYEPPKVESRSFSKGLFNITINGNNFGNSTSLIKVYFNGSDISSEIQSLNDNQFTFKRLNSYENGPINITVDGNSNMEPSFYLTLPPVIYSIINKENKTIGCGGLITISGKNLLTSDDKFKVRVLANNENTTVIVPDEKTLIVRANNKDSPLFVSTLIGDDLGPNTTLTYFEPRITVIPTVKNKKDGISIRVGGVSLSGIINASLGISSENVSLSCDLQCSLSPNETFYLSNPILSSNEKDITNSTDCLSCHSMNSIVVDETSGVLYLQLGPTSYHYDVKIEEIQSSLNPSSSNGGERKSSKLSGGAIAGITIGCVAGAGALVGSVFYFKLITRVKKAFN
UniProt ID: Q9UBB9
Variant: N -> S at position 177-177
Variant annotation: in dbSNP:rs6005062
Protein function: Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.
Reference sequence:
MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERPSFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPSQKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGAYGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKLTAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPELEHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECERRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYGTEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWVHIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSSALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVIDWEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKFNEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASSVPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSLIDMAK
UniProt ID: Q9UBC0
Variant: P -> A at position 75-75
Variant annotation: in dbSNP:rs74805019
Protein function: Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription.
Reference sequence:
MNAQLTMEAIGELHGVSHEPVPAPADLLGGSPHARSSVAHRGSHLPPAHPRSMGMASLLDGGSGGGDYHHHHRAPEHSLAGPLHPTMTMACETPPGMSMPTTYTTLTPLQPLPPISTVSDKFPHHHHHHHHHHHPHHHQRLAGNVSGSFTLMRDERGLASMNNLYTPYHKDVAGMGQSLSPLSSSGLGSIHNSQQGLPHYAHPGAAMPTDKMLTPNGFEAHHPAMLGRHGEQHLTPTSAGMVPINGLPPHHPHAHLNAQGHGQLLGTAREPNPSVTGAQVSNGSNSGQMEEINTKEVAQRITTELKRYSIPQAIFAQRVLCRSQGTLSDLLRNPKPWSKLKSGRETFRRMWKWLQEPEFQRMSALRLAACKRKEQEHGKDRGNTPKKPRLVFTDVQRRTLHAIFKENKRPSKELQITISQQLGLELSTVSNFFMNARRRSLDKWQDEGSSNSGNSSSSSSTCTKA
UniProt ID: Q9UBC5
Variant: S -> SS at position 116-116
Variant annotation: found in a patient with hearing loss; uncertain significance
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: V -> M at position 306-306
Variant annotation: found in a patient with hearing loss; uncertain significance; dbSNP:rs55679042
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: E -> D at position 385-385
Variant annotation: found in a patient with hearing loss; uncertain significance; dbSNP:rs61753849
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: P -> L at position 426-426
Variant annotation: in dbSNP:rs4759043
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: C -> S at position 506-506
Variant annotation: in dbSNP:rs12297756
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: F -> L at position 600-600
Variant annotation: in dbSNP:rs2270738
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: G -> E at position 662-662
Variant annotation: found in a patient with hearing loss; benign; dbSNP:rs33962952
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: G -> D at position 674-674
Variant annotation: found in a patient with hearing loss; uncertain significance; dbSNP:rs148808080
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: S -> F at position 797-797
Variant annotation: in dbSNP:rs113470661
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ
UniProt ID: Q9UBC5
Variant: S -> P at position 910-910
Variant annotation: found in a patient with hearing loss; uncertain significance; dbSNP:rs121909306
Effect: loss
Protein function: Involved in directing the movement of organelles along actin filaments.
Reference sequence:
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEYKREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQVEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ