Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | KCNAB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | KCNAB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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KCNAB1 (Canis lupus familiaris - dog) |
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KCNAB1 (Homo sapiens - human) |
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Kcnab1 (Mus musculus - house mouse) |
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Kcnab1 (Rattus norvegicus - Norway rat) |
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Kcnab1 (Chinchilla lanigera - long-tailed chinchilla) |
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KCNAB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Kcnab1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCNAB1 (Sus scrofa - pig) |
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KCNAB1 (Chlorocebus sabaeus - green monkey) |
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Kcnab1 (Heterocephalus glaber - naked mole-rat) |
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Variants in KCNAB1
5673 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 6 | 7 | 8 | 5 | ||||||||
Low | 5 | 5 | 12 | 2 | 6 | 2 | 3 | 3 | 5 | 5 | 6 | |
Below cutoff | 4 | 4 | 4 | 3 | 3 |
RefSeq Transcripts | XM_003433171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014106570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022408781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038432731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038432732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038432733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038432734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038508042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038508043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038508044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038508045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038571281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038571282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038571283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038571284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038635473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038635474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038635475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000014066 ⟹ ENSCAFP00000013013 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000014072 ⟹ ENSCAFP00000013018 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000076203 ⟹ ENSCAFP00000054785 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000082551 ⟹ ENSCAFP00000046705 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000085358 ⟹ ENSCAFP00000046017 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000087634 ⟹ ENSCAFP00000057118 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000087731 ⟹ ENSCAFP00000055484 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845039855 ⟹ ENSCAFP00845031213 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845039953 ⟹ ENSCAFP00845031286 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845040064 ⟹ ENSCAFP00845031372 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845040192 ⟹ ENSCAFP00845031478 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845040304 ⟹ ENSCAFP00845031569 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845040459 ⟹ ENSCAFP00845031678 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003433171 ⟹ XP_003433219 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014106570 ⟹ XP_013962045 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022408781 ⟹ XP_022264489 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038432731 ⟹ XP_038288659 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038432732 ⟹ XP_038288660 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038432733 ⟹ XP_038288661 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038432734 ⟹ XP_038288662 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038508042 ⟹ XP_038363970 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038508043 ⟹ XP_038363971 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038508044 ⟹ XP_038363972 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038508045 ⟹ XP_038363973 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571281 ⟹ XP_038427209 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571282 ⟹ XP_038427210 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571283 ⟹ XP_038427211 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571284 ⟹ XP_038427212 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635473 ⟹ XP_038491401 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635474 ⟹ XP_038491402 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635475 ⟹ XP_038491403 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_003433219 | (Get FASTA) | NCBI Sequence Viewer |
XP_013962045 | (Get FASTA) | NCBI Sequence Viewer | |
XP_022264489 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038288659 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038288660 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038288661 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038288662 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038363970 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038363971 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038363972 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038363973 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038427209 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038427210 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038427211 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038427212 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038491401 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038491402 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038491403 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000013013.5 | ||
ENSCAFP00000013018.3 | |||
ENSCAFP00000046017.1 | |||
ENSCAFP00000046705.1 | |||
ENSCAFP00000054785.1 | |||
ENSCAFP00000055484.1 | |||
ENSCAFP00000057118.1 | |||
ENSCAFP00030028459.1 | |||
ENSCAFP00030028513.1 | |||
ENSCAFP00030028544.1 | |||
ENSCAFP00030028638.1 | |||
ENSCAFP00030028697.1 | |||
ENSCAFP00030028828.1 | |||
ENSCAFP00030028911.1 | |||
ENSCAFP00040031367.1 | |||
ENSCAFP00040031443.1 | |||
ENSCAFP00040031485.1 | |||
ENSCAFP00040031552.1 | |||
ENSCAFP00040031594.1 | |||
ENSCAFP00845031213 | |||
ENSCAFP00845031213.1 | |||
ENSCAFP00845031286 | |||
ENSCAFP00845031286.1 | |||
ENSCAFP00845031372 | |||
ENSCAFP00845031372.1 | |||
ENSCAFP00845031478.1 | |||
ENSCAFP00845031569.1 | |||
ENSCAFP00845031678.1 |
RefSeq Acc Id: | XP_003433219 ⟸ XM_003433171 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0T476 (UniProtKB/TrEMBL), A0A8I3PCA7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013962045 ⟸ XM_014106570 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0JX76 (UniProtKB/TrEMBL), A0A8C0NNK3 (UniProtKB/TrEMBL), A0A8I3PCH4 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022264489 ⟸ XM_022408781 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NKB1 (UniProtKB/TrEMBL), A0A8I3PC40 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000013018 ⟸ ENSCAFT00000014072 |
RefSeq Acc Id: | ENSCAFP00000013013 ⟸ ENSCAFT00000014066 |
RefSeq Acc Id: | ENSCAFP00000055484 ⟸ ENSCAFT00000087731 |
RefSeq Acc Id: | ENSCAFP00000057118 ⟸ ENSCAFT00000087634 |
RefSeq Acc Id: | ENSCAFP00000054785 ⟸ ENSCAFT00000076203 |
RefSeq Acc Id: | ENSCAFP00000046705 ⟸ ENSCAFT00000082551 |
RefSeq Acc Id: | ENSCAFP00000046017 ⟸ ENSCAFT00000085358 |
RefSeq Acc Id: | XP_038363970 ⟸ XM_038508042 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038363973 ⟸ XM_038508045 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038363971 ⟸ XM_038508043 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038363972 ⟸ XM_038508044 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038491401 ⟸ XM_038635473 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038491402 ⟸ XM_038635474 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038491403 ⟸ XM_038635475 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038288659 ⟸ XM_038432731 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NKB1 (UniProtKB/TrEMBL), A0A8I3PC40 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038288662 ⟸ XM_038432734 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038288660 ⟸ XM_038432732 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0T476 (UniProtKB/TrEMBL), A0A8I3PCA7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038288661 ⟸ XM_038432733 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0JX76 (UniProtKB/TrEMBL), A0A8C0NNK3 (UniProtKB/TrEMBL), A0A8I3PCH4 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427209 ⟸ XM_038571281 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NKB1 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3PC40 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427212 ⟸ XM_038571284 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038427210 ⟸ XM_038571282 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0T476 (UniProtKB/TrEMBL), A0A8I3PCA7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427211 ⟸ XM_038571283 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0JX76 (UniProtKB/TrEMBL), A0A8C0NNK3 (UniProtKB/TrEMBL), A0A8C0T705 (UniProtKB/TrEMBL), A0A8I3PCH4 (UniProtKB/TrEMBL), A0A8I3S3A6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845031213 ⟸ ENSCAFT00845039855 |
RefSeq Acc Id: | ENSCAFP00845031478 ⟸ ENSCAFT00845040192 |
RefSeq Acc Id: | ENSCAFP00845031678 ⟸ ENSCAFT00845040459 |
RefSeq Acc Id: | ENSCAFP00845031372 ⟸ ENSCAFT00845040064 |
RefSeq Acc Id: | ENSCAFP00845031286 ⟸ ENSCAFT00845039953 |
RefSeq Acc Id: | ENSCAFP00845031569 ⟸ ENSCAFT00845040304 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000008838 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030017474 | UniProtKB/TrEMBL | |
ENSCAFG00040019330 | UniProtKB/TrEMBL | |
ENSCAFG00845022469 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000014066.6 | UniProtKB/TrEMBL |
ENSCAFT00000014072.5 | UniProtKB/TrEMBL | |
ENSCAFT00000076203.2 | UniProtKB/TrEMBL | |
ENSCAFT00000082551.2 | UniProtKB/TrEMBL | |
ENSCAFT00000085358.2 | UniProtKB/TrEMBL | |
ENSCAFT00000087634.2 | UniProtKB/TrEMBL | |
ENSCAFT00000087731.2 | UniProtKB/TrEMBL | |
ENSCAFT00030032626.1 | UniProtKB/TrEMBL | |
ENSCAFT00030032680.1 | UniProtKB/TrEMBL | |
ENSCAFT00030032720.1 | UniProtKB/TrEMBL | |
ENSCAFT00030032831.1 | UniProtKB/TrEMBL | |
ENSCAFT00030032897.1 | UniProtKB/TrEMBL | |
ENSCAFT00030033051.1 | UniProtKB/TrEMBL | |
ENSCAFT00030033138.1 | UniProtKB/TrEMBL | |
ENSCAFT00040036013.1 | UniProtKB/TrEMBL | |
ENSCAFT00040036109.1 | UniProtKB/TrEMBL | |
ENSCAFT00040036157.1 | UniProtKB/TrEMBL | |
ENSCAFT00040036232.1 | UniProtKB/TrEMBL | |
ENSCAFT00040036283.1 | UniProtKB/TrEMBL | |
ENSCAFT00845039855 | ENTREZGENE | |
ENSCAFT00845039855.1 | UniProtKB/TrEMBL | |
ENSCAFT00845039953 | ENTREZGENE | |
ENSCAFT00845039953.1 | UniProtKB/TrEMBL | |
ENSCAFT00845040064 | ENTREZGENE | |
ENSCAFT00845040064.1 | UniProtKB/TrEMBL | |
ENSCAFT00845040192.1 | UniProtKB/TrEMBL | |
ENSCAFT00845040304.1 | UniProtKB/TrEMBL | |
ENSCAFT00845040459.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.20.20.100 | UniProtKB/TrEMBL |
InterPro | K_chnl_volt-dep_bsu_KCNAB | UniProtKB/TrEMBL |
K_chnl_volt-dep_bsu_KCNAB-rel | UniProtKB/TrEMBL | |
K_chnl_volt-dep_bsu_KCNAB1 | UniProtKB/TrEMBL | |
NADP_OxRdtase_dom | UniProtKB/TrEMBL | |
NADP_OxRdtase_dom_sf | UniProtKB/TrEMBL | |
KEGG Report | cfa:612006 | UniProtKB/TrEMBL |
NCBI Gene | KCNAB1 | ENTREZGENE |
PANTHER | PTHR43150 | UniProtKB/TrEMBL |
VOLTAGE-GATED POTASSIUM CHANNEL SUBUNIT BETA-1 | UniProtKB/TrEMBL | |
Pfam | Aldo_ket_red | UniProtKB/TrEMBL |
PRINTS | KCNAB1CHANEL | UniProtKB/TrEMBL |
KCNABCHANNEL | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF51430 | UniProtKB/TrEMBL |
UniProt | A0A8C0JX76 | ENTREZGENE |
A0A8C0NKB1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0NNK3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0NPD8_CANLF | UniProtKB/TrEMBL | |
A0A8C0NS61_CANLF | UniProtKB/TrEMBL | |
A0A8C0RMU1_CANLF | UniProtKB/TrEMBL | |
A0A8C0T476 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0T705 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0T7L6_CANLF | UniProtKB/TrEMBL | |
A0A8I3PC40 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PCA7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PCB8_CANLF | UniProtKB/TrEMBL | |
A0A8I3PCH4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PCK5_CANLF | UniProtKB/TrEMBL | |
A0A8I3S3A6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0NAY7_CANLF | UniProtKB/TrEMBL | |
A0A8P0SZV0_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:42233 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2021-04-26 | KCNAB1 | potassium voltage-gated channel subfamily A regulatory beta subunit 1 | KCNAB1 | potassium voltage-gated channel subfamily A member regulatory beta subunit 1 | Symbol and/or name change | 19259463 | PROVISIONAL |
2017-11-21 | KCNAB1 | potassium voltage-gated channel subfamily A member regulatory beta subunit 1 | LOC106557632 | voltage-gated potassium channel subunit beta-1-like | Data merged from RGD:12125998 | 737654 | PROVISIONAL |