sujigwak/NVAR huggingface dataset:
UniProt ID: B7U540
Variant: V -> M at position 168-168
Variant annotation: in TTPP2; uncertain significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces open propability; dominant negative mutation; dbSNP:rs527236154
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: G -> R at position 169-169
Variant annotation: found in a patient with hypokalemic periodic paralysis without hyperthyroidism; reduces potassium inward and outward currents density; dbSNP:rs1311839715
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: A -> P at position 200-200
Variant annotation: found in a patient with sporadic periodic paralysis; uncertain significance; abolishes potassium inward and outward currents density; reduces cell surface abundance; dbSNP:rs527236155
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: R -> H at position 205-205
Variant annotation: in TTPP2; hypermorphic; longer time required for half-maximal current degradation; dbSNP:rs672601244
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: I -> V at position 249-249
Variant annotation: in dbSNP:rs1182398045
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: T -> M at position 354-354
Variant annotation: in TTPP2; small decrease in current density; dbSNP:rs527236158
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: K -> T at position 360-360
Variant annotation: in TTPP2; abolishes potassium inward and outward currents density
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: K -> R at position 366-366
Variant annotation: in TTPP2; hypermorphic; longer time required for half-maximal current degradation; dbSNP:rs527236159
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: E -> K at position 388-388
Variant annotation: in TTPP2; reduces potassium inward and outward currents density; dbSNP:rs1960793684
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: C0HK25
Variant: K -> M at position 4-4
Protein function: Binds in decreasing order of affinity: galacturonic acid, D-galactosamine, methyl-alpha-D-galactopyranoside and further galactose-containing carbohydrates. Has hemagglutinating activity against human and rabbit erythrocytes.
Reference sequence:
DPDKCKTIRVESWSYKYAEKVVEDASYVLNMTVVDRQSAAACTLGESFGYQKATLWVDHGCRADFKVCYLPVMPTECQTLRVESWNYKYAEKVVEGAALFINMTVEDRQSEASCDLDKSFGFYNQNSTVWVNHGCRADFNICYLKGAVTTSTINVSSWNYQYATKVLPAASCIYSMRVVNQQSAAPCTLGTTYGFVANTMWVDDGCRADFKPSYYSP
UniProt ID: C0HK25
Variant: A -> D at position 53-53
Protein function: Binds in decreasing order of affinity: galacturonic acid, D-galactosamine, methyl-alpha-D-galactopyranoside and further galactose-containing carbohydrates. Has hemagglutinating activity against human and rabbit erythrocytes.
Reference sequence:
DPDKCKTIRVESWSYKYAEKVVEDASYVLNMTVVDRQSAAACTLGESFGYQKATLWVDHGCRADFKVCYLPVMPTECQTLRVESWNYKYAEKVVEGAALFINMTVEDRQSEASCDLDKSFGFYNQNSTVWVNHGCRADFNICYLKGAVTTSTINVSSWNYQYATKVLPAASCIYSMRVVNQQSAAPCTLGTTYGFVANTMWVDDGCRADFKPSYYSP
UniProt ID: C0HK25
Variant: T -> A at position 199-199
Protein function: Binds in decreasing order of affinity: galacturonic acid, D-galactosamine, methyl-alpha-D-galactopyranoside and further galactose-containing carbohydrates. Has hemagglutinating activity against human and rabbit erythrocytes.
Reference sequence:
DPDKCKTIRVESWSYKYAEKVVEDASYVLNMTVVDRQSAAACTLGESFGYQKATLWVDHGCRADFKVCYLPVMPTECQTLRVESWNYKYAEKVVEGAALFINMTVEDRQSEASCDLDKSFGFYNQNSTVWVNHGCRADFNICYLKGAVTTSTINVSSWNYQYATKVLPAASCIYSMRVVNQQSAAPCTLGTTYGFVANTMWVDDGCRADFKPSYYSP
UniProt ID: C4YKT4
Variant: N -> NN at position 216-216
Variant annotation: in allele A
Protein function: Required for the regulation of both a MAP kinase signaling pathway and a cAMP signaling pathway. The activation of these pathways contributes to the pathogenicity of the cells through the induction of the morphological transition from the yeast to the polarized filamentous form.
Reference sequence:
MLREYKLVVVGGGGVGKSALTIQLIQSHFVDEYDPTIEDSYRKQCTIDDQQVLLDVLDTAGQEEYSAMREQYMRTGEGFLLVYSINSLNSFQELNSFYDQILRVKDSDNVPVLVVGNKCDLEMERQVSYEDGLALANSFNCPFLETSAKQRINVEEAFYGLVRNINQYNAKIAEAEKQQQQQQQQQNANQQGQDQYGQQKDNQQSQFNNQINNNNNTSAVNGGVSSDGIIDQNGNGGVSSGQANLPNQSQSQRQQQQQQQEPQQQSENQFSGQKQSSSKSKNGCCVIV
UniProt ID: C4YKT4
Variant: S -> SQS at position 251-251
Variant annotation: in allele B
Protein function: Required for the regulation of both a MAP kinase signaling pathway and a cAMP signaling pathway. The activation of these pathways contributes to the pathogenicity of the cells through the induction of the morphological transition from the yeast to the polarized filamentous form.
Reference sequence:
MLREYKLVVVGGGGVGKSALTIQLIQSHFVDEYDPTIEDSYRKQCTIDDQQVLLDVLDTAGQEEYSAMREQYMRTGEGFLLVYSINSLNSFQELNSFYDQILRVKDSDNVPVLVVGNKCDLEMERQVSYEDGLALANSFNCPFLETSAKQRINVEEAFYGLVRNINQYNAKIAEAEKQQQQQQQQQNANQQGQDQYGQQKDNQQSQFNNQINNNNNTSAVNGGVSSDGIIDQNGNGGVSSGQANLPNQSQSQRQQQQQQQEPQQQSENQFSGQKQSSSKSKNGCCVIV
UniProt ID: C6ZJZ3
Variant: D -> N at position 170-170
Variant annotation: in strain: Zhongzuo 06-06
Protein function: (Microbial infection) Susceptibility host factor required for viral infection by recruiting viral RNAs to the host ribosomal complex via an interaction with viral genome-linked protein (VPg).
Reference sequence:
MVVEDTQKSVITEDQYPSRVVSDNNNDDDDDDLEEGEIPVDGEDSGATATTKPPAALARNPHPLENSWTFWFDNPSSKSKQAAWGSSIRPIYTFATVEEFWSIYNNIHHPSKLGLGADFHCFKHKIEPKWEDPICANGGKWTMTFPRGKSDTSWLYTLLAMIGEQFDHGDEICGAVVNVRSRQDKIAIWTKNASNEAAQVSIGKQWKEFLDYNDTIGFIFHEDAKKLDRGAKNKYVV
UniProt ID: C6ZJZ3
Variant: R -> K at position 180-180
Variant annotation: in strain: Liao 04M05-3 and Zhongzuo J8035
Protein function: (Microbial infection) Susceptibility host factor required for viral infection by recruiting viral RNAs to the host ribosomal complex via an interaction with viral genome-linked protein (VPg).
Reference sequence:
MVVEDTQKSVITEDQYPSRVVSDNNNDDDDDDLEEGEIPVDGEDSGATATTKPPAALARNPHPLENSWTFWFDNPSSKSKQAAWGSSIRPIYTFATVEEFWSIYNNIHHPSKLGLGADFHCFKHKIEPKWEDPICANGGKWTMTFPRGKSDTSWLYTLLAMIGEQFDHGDEICGAVVNVRSRQDKIAIWTKNASNEAAQVSIGKQWKEFLDYNDTIGFIFHEDAKKLDRGAKNKYVV
UniProt ID: C8YR32
Variant: I -> N at position 1342-1342
Variant annotation: in the samba murine model of hearing loss
Effect: loss
Protein function: Required for normal function of hair cells in the inner ear.
Reference sequence:
MMAQKKKRRKKDIDFLGLYEEELLNYDSEDGEDELEHEYYKAKVYEVVTATGDVRGAGTDANVFITLFGENGLSPKLHLTSKSESAFEKANVDVFRVRTNNVGLIYKIRIEHDNTGLNASWYLDRVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLLASFDPMDMPRGNKYEIKVYTGDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKGAEDKFTLDAPDLGQLMKINVGHNNKGGSAGWFLSKIIIEDIGNKRKYDFPLNRWLALDEDDGKIQRDILVGGAETTAITYIVTVFTGDIRGAGTKSKIYLVMYGARGNKNSGKIFLEGGVFDRGRTDIFHIDLAVLLSPLSRVSIGHGNIGVNRGWYCEKVVILCPFTGIQQTFPCSNWLDEKKADGLIERQLYEMVSLRKKRLKKYPWSLWVWTTDLKKAGTNSPIFIQIYGKKGRTDEILLNPNNKWFKPGIIEKFRMELPDLGRFYKIRAWHDRQNPGSGWHLEKMTLMNTINKDKYNFNCNRWLDANEDDNEIVREMTAEGPTVRRIMGMARYRVTVCTGELEGAGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFEKGNADEFTIESVTMRKVRRVRVRHDGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLDKDKDDGQLVRELLPSDSNATLKNFRYHISVKTGDVSGASTDSRVYIKLYGEKSDTIKQVLLVSDNNLKDYFERGRVDEFTLETLNIGTINRLVIGHDSTGMHAGWFLGSVQIRVPRQGKQYTFPANRWLDKNQADGRLEVELYPSEVVEIQKLVHYEIEIWTGDVGGAGTTSRVFVQIYGEEGKTEVLFLSSRSKVFDRGSKDIFQTDTFTIYAIDLGALTKIRIRHDNTGNRPGWFLDRVDITDVNNETTYYFPCQRWLAVEEDDGQLSRELLPVDESYVLPSEDEEGGGQGDNNPLDNLALEQKDKSTTFSVTIKTGDKKNAGTDANVFITLFGTQDNNGMTLLKSSKTNSDKFERDSIEIFTVETLDLGDLWKVRIGHDNTGKAPGWFVDWVEVDAPSLGKCMTFPCGRWLAKNEDDGSIVRDLFHAELQTRLYTPFVPYEITLYTSDVFAAGTDANIFIVIYGCDAVCTRQKFLCTNKREQKLFFERKSASRFIVELEDVGEIIEKIRIGHDNTGINPGWHCSHVDIRRLLPEKDGTETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKYMKDGSLRQVYKEVEEPLDIVLYSVQIFTGNVPGAGTDAKVYITIYGDLGDTGERYLGKSENRTNKFEKGTADTFIIEAADLGVIYKIKLRHDNTKWCADWYVEKVEIWNDTNEDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDRSSNCSSPADFWEIALSSKMADVDIDTVTGPMVDYVQDGPVIPYYVSVTTGKHKEAATDSRAFVLLIGEDDECTNRIWLDYPQGKRGFSCGSVEEFYVGGLDVGIIKKIELGHDGASPESCWLVEELCLAVPTQGTKYTLRCNCWLAKDRGDGVTSRVFDLLDAMVVNIGKKVLYEMTVWTGDVVGGGTDSNIFMTLYGINGSTEEVQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGMGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQKKGKKTLVCEICAVIDGEEMMEWTSYTVSVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFSDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFRFQCDCWLSKSEGDRQTLRDFACANNEIRDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLVENSSRQRAFRKGTTDTFEFDSIFLGDIASLCVGHLAREDRFIPKRELVWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKIQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYYSGWLVEKVEVTNTSTGVATIFSCGRWLDKSRGDGLTWRELFPSV
UniProt ID: C9JE40
Variant: M -> L at position 88-88
Variant annotation: in dbSNP:rs8026845
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: L -> R at position 189-189
Variant annotation: in OZEMA4; dbSNP:rs1156737044
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: Y -> N at position 217-217
Variant annotation: in OZEMA4; dbSNP:rs1361024832
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: V -> M at position 260-260
Variant annotation: in OZEMA4; uncertain significance
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: R -> Q at position 280-280
Variant annotation: in OZEMA4; uncertain significance; dbSNP:rs569729547
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: I -> T at position 318-318
Variant annotation: in OZEMA4; uncertain significance; dbSNP:rs1011539285
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JE40
Variant: G -> R at position 370-370
Variant annotation: in OZEMA4; uncertain significance; dbSNP:rs1397500378
Protein function: RNA-binding protein that acts as a translational repressor.
Reference sequence:
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
UniProt ID: C9JR72
Variant: R -> S at position 248-248
Variant annotation: in NEM6; dbSNP:rs200549195
Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
Reference sequence:
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL
UniProt ID: C9JR72
Variant: K -> N at position 390-390
Variant annotation: in NEM6; dbSNP:rs1364598710
Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
Reference sequence:
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL
UniProt ID: C9JR72
Variant: R -> C at position 408-408
Variant annotation: in NEM6; dbSNP:rs387907090
Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
Reference sequence:
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL
UniProt ID: D0QMC3
Variant: K -> N at position 6-6
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV