Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | epilepsy | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:11580756 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | epilepsy | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:11580756 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7649300 | PMID:8001150 | PMID:8636142 | PMID:8838324 | PMID:9760292 | PMID:10428084 | PMID:10477520 | PMID:10624965 | PMID:11086297 | PMID:12431995 | PMID:12477932 | PMID:12893943 |
PMID:14702039 | PMID:15489334 | PMID:15592455 | PMID:16344560 | PMID:16710414 | PMID:16713569 | PMID:19953087 | PMID:21873635 | PMID:23264583 | PMID:23390957 | PMID:24332808 | PMID:24952745 |
PMID:25416956 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:27287695 | PMID:28514442 | PMID:30652415 | PMID:32041737 | PMID:32109873 | PMID:32249768 | PMID:32513696 | PMID:32812023 |
PMID:32814053 | PMID:33961781 | PMID:35091471 | PMID:35831314 | PMID:35914814 | PMID:36339263 | PMID:36359834 |
KCNAB2 (Homo sapiens - human) |
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Kcnab2 (Mus musculus - house mouse) |
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Kcnab2 (Rattus norvegicus - Norway rat) |
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Kcnab2 (Chinchilla lanigera - long-tailed chinchilla) |
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KCNAB2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KCNAB2 (Canis lupus familiaris - dog) |
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Kcnab2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCNAB2 (Sus scrofa - pig) |
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KCNAB2 (Chlorocebus sabaeus - green monkey) |
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Kcnab2 (Heterocephalus glaber - naked mole-rat) |
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Variants in KCNAB2
50 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 | copy number loss | See cases [RCV000051086] | Chr1:2844760..8007940 [GRCh38] Chr1:2761325..8068000 [GRCh37] Chr1:2751185..7990587 [NCBI36] Chr1:1p36.32-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 | copy number loss | See cases [RCV000051143] | Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] | Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3 | copy number gain | See cases [RCV000051784] | Chr1:4799319..6129675 [GRCh38] Chr1:4859379..6189735 [GRCh37] Chr1:4759239..6112322 [NCBI36] Chr1:1p36.32-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 | copy number loss | See cases [RCV000052045] | Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 | copy number loss | See cases [RCV000051993] | Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 | copy number loss | See cases [RCV000051995] | Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] | Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] | Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] | Chr1:5274008..9329925 [GRCh38] Chr1:5334068..9389984 [GRCh37] Chr1:5233928..9312571 [NCBI36] Chr1:1p36.32-36.22 |
pathogenic |
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] | Chr1:5682528..10863843 [GRCh38] Chr1:5742588..10923900 [GRCh37] Chr1:5665175..10846487 [NCBI36] Chr1:1p36.31-36.22 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] | Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 | copy number loss | See cases [RCV000053714] | Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13 |
pathogenic |
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] | Chr1:3319336..11243395 [GRCh38] Chr1:3235900..11303452 [GRCh37] Chr1:3225760..11226039 [NCBI36] Chr1:1p36.32-36.22 |
pathogenic |
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] | Chr1:3438149..8171914 [GRCh38] Chr1:3354713..8231974 [GRCh37] Chr1:3344573..8154561 [NCBI36] Chr1:1p36.32-36.23 |
pathogenic |
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1 | copy number loss | See cases [RCV000053720] | Chr1:3472163..7842947 [GRCh38] Chr1:3388727..7903007 [GRCh37] Chr1:3378587..7825594 [NCBI36] Chr1:1p36.32-36.23 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 | copy number loss | See cases [RCV000053724] | Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
NM_001199862.1(KCNAB2):c.177C>T (p.Ser59=) | single nucleotide variant | Malignant melanoma [RCV000064851] | Chr1:6051713 [GRCh38] Chr1:6111773 [GRCh37] Chr1:6034360 [NCBI36] Chr1:1p36.31 |
not provided |
NM_001199862.1(KCNAB2):c.617C>T (p.Ser206Phe) | single nucleotide variant | Malignant melanoma [RCV000064852] | Chr1:6091278 [GRCh38] Chr1:6151338 [GRCh37] Chr1:6073925 [NCBI36] Chr1:1p36.31 |
not provided |
NM_001199862.2(KCNAB2):c.125C>T (p.Ala42Val) | single nucleotide variant | not provided [RCV002292720] | Chr1:6051661 [GRCh38] Chr1:6111721 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 | copy number loss | See cases [RCV000133943] | Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 | copy number loss | See cases [RCV000136554] | Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 | copy number loss | See cases [RCV000136695] | Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 | copy number loss | See cases [RCV000137461] | Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 | copy number loss | See cases [RCV000139404] | Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 | copy number loss | See cases [RCV000138896] | Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 | copy number loss | See cases [RCV000141970] | Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) | single nucleotide variant | not provided [RCV000974071]|not specified [RCV000203075] | Chr1:6098509 [GRCh38] Chr1:6158569 [GRCh37] Chr1:1p36.31 |
likely benign|uncertain significance |
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 | copy number loss | See cases [RCV000141437] | Chr1:2868477..7332569 [GRCh38] Chr1:2785042..7392629 [GRCh37] Chr1:2774902..7315216 [NCBI36] Chr1:1p36.32-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 | copy number loss | See cases [RCV000141577] | Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 | copy number loss | See cases [RCV000142651] | Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 | copy number loss | See cases [RCV000142615] | Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 | copy number loss | See cases [RCV000142709] | Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 | copy number loss | See cases [RCV000142771] | Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
Single allele | complex | Ductal breast carcinoma [RCV000207058] | Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
chr1:909238-16736132 complex variant | complex | Ductal breast carcinoma [RCV000207094] | Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 | copy number loss | See cases [RCV000239416] | Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 | copy number loss | See cases [RCV000240403] | Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) | copy number loss | Primary dilated cardiomyopathy [RCV000626523] | Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
NM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met) | single nucleotide variant | Inborn genetic diseases [RCV003195620] | Chr1:6040588 [GRCh38] Chr1:6100648 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 | copy number loss | See cases [RCV000449468] | Chr1:2817420..10670878 [GRCh37] Chr1:1p36.32-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 | copy number loss | See cases [RCV000449148] | Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 | copy number loss | See cases [RCV000446331] | Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 | copy number loss | See cases [RCV000446359] | Chr1:4558588..13187457 [GRCh37] Chr1:1p36.32-36.21 |
pathogenic |
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3 | copy number gain | See cases [RCV000447158] | Chr1:2609223..2631378 [GRCh37] Chr1:1p36.32-36.31 |
benign |
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 | copy number loss | See cases [RCV000446470] | Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 | copy number loss | See cases [RCV000448061] | Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 | copy number loss | See cases [RCV000512052] | Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 | copy number loss | See cases [RCV000510494] | Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1 | copy number loss | See cases [RCV000510212] | Chr1:2793822..7510850 [GRCh37] Chr1:1p36.32-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 | copy number loss | See cases [RCV000511381] | Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.31(chr1:5962543-6062001)x4 | copy number gain | See cases [RCV000511414] | Chr1:5962543..6062001 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001199862.2(KCNAB2):c.988G>T (p.Gly330Cys) | single nucleotide variant | Inborn genetic diseases [RCV003276677] | Chr1:6096675 [GRCh38] Chr1:6156735 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 | copy number loss | See cases [RCV000512568] | Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
NM_001199862.2(KCNAB2):c.535C>T (p.Arg179Ter) | single nucleotide variant | Inborn genetic diseases [RCV000623902] | Chr1:6090409 [GRCh38] Chr1:6150469 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 | copy number loss | not provided [RCV000684534] | Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.32-36.23(chr1:4965631-8106987)x1 | copy number loss | not provided [RCV000736366] | Chr1:4965631..8106987 [GRCh37] Chr1:1p36.32-36.23 |
pathogenic |
GRCh37/hg19 1p36.31(chr1:6065164-6066517)x0 | copy number loss | not provided [RCV000736368] | Chr1:6065164..6066517 [GRCh37] Chr1:1p36.31 |
benign |
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 | copy number loss | not provided [RCV000736294] | Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 | copy number loss | not provided [RCV000736304] | Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.31(chr1:6065164-6065532)x0 | copy number loss | not provided [RCV000736367] | Chr1:6065164..6065532 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.552C>T (p.Tyr184=) | single nucleotide variant | not provided [RCV000918245] | Chr1:6090426 [GRCh38] Chr1:6150486 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 | copy number loss | See cases [RCV000790584] | Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
NM_003636.4(KCNAB2):c.105G>A (p.Gln35=) | single nucleotide variant | not provided [RCV000926840] | Chr1:6041858 [GRCh38] Chr1:6101918 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.834G>A (p.Pro278=) | single nucleotide variant | not provided [RCV000892776] | Chr1:6095424 [GRCh38] Chr1:6155484 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.380+10_380+14del | deletion | not provided [RCV000946438] | Chr1:6082282..6082286 [GRCh38] Chr1:6142342..6142346 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.390G>A (p.Val130=) | single nucleotide variant | not provided [RCV000946439] | Chr1:6085213 [GRCh38] Chr1:6145273 [GRCh37] Chr1:1p36.31 |
benign|likely benign |
NM_001199862.2(KCNAB2):c.498G>A (p.Arg166=) | single nucleotide variant | not provided [RCV000965534] | Chr1:6089035 [GRCh38] Chr1:6149095 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.263-6T>C | single nucleotide variant | not provided [RCV000938157] | Chr1:6073727 [GRCh38] Chr1:6133787 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.927C>A (p.Pro309=) | single nucleotide variant | not provided [RCV000906793] | Chr1:6095603 [GRCh38] Chr1:6155663 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.601+5G>A | single nucleotide variant | not provided [RCV000921650] | Chr1:6090480 [GRCh38] Chr1:6150540 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=) | single nucleotide variant | not provided [RCV000924528] | Chr1:6096719 [GRCh38] Chr1:6156779 [GRCh37] Chr1:1p36.31 |
benign |
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 | copy number loss | See cases [RCV000790592] | Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NM_001199862.2(KCNAB2):c.987G>C (p.Glu329Asp) | single nucleotide variant | Inborn genetic diseases [RCV003266854] | Chr1:6096674 [GRCh38] Chr1:6156734 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) | copy number loss | Chromosome 1p36 deletion syndrome [RCV000767774] | Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787413] | Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NM_001199862.2(KCNAB2):c.768C>G (p.Thr256=) | single nucleotide variant | not provided [RCV000981204] | Chr1:6095358 [GRCh38] Chr1:6155418 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.1161C>T (p.Val387=) | single nucleotide variant | not provided [RCV000918537] | Chr1:6098487 [GRCh38] Chr1:6158547 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh37/hg19 1p36.31(chr1:5884375-6102915)x4 | copy number gain | not provided [RCV000849992] | Chr1:5884375..6102915 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.514+8C>T | single nucleotide variant | not provided [RCV001171745] | Chr1:6089059 [GRCh38] Chr1:6149119 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh37/hg19 1p36.31(chr1:6103234-6230157)x3 | copy number gain | not provided [RCV000845607] | Chr1:6103234..6230157 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.1159-5C>T | single nucleotide variant | not provided [RCV000894391] | Chr1:6098480 [GRCh38] Chr1:6158540 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.301-7G>A | single nucleotide variant | not provided [RCV000931210] | Chr1:6082188 [GRCh38] Chr1:6142248 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.949-9C>T | single nucleotide variant | not provided [RCV000970691] | Chr1:6096627 [GRCh38] Chr1:6156687 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.1101C>T (p.Ser367=) | single nucleotide variant | not provided [RCV000981336] | Chr1:6097300 [GRCh38] Chr1:6157360 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.402C>T (p.Asn134=) | single nucleotide variant | not provided [RCV000910884] | Chr1:6085225 [GRCh38] Chr1:6145285 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.279C>T (p.Phe93=) | single nucleotide variant | not provided [RCV000888609] | Chr1:6073749 [GRCh38] Chr1:6133809 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.705G>A (p.Thr235=) | single nucleotide variant | not provided [RCV000910928] | Chr1:6094458 [GRCh38] Chr1:6154518 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.732+5G>A | single nucleotide variant | not provided [RCV000888610] | Chr1:6094490 [GRCh38] Chr1:6154550 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.771G>A (p.Pro257=) | single nucleotide variant | not provided [RCV000911354] | Chr1:6095361 [GRCh38] Chr1:6155421 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.1170A>G (p.Lys390=) | single nucleotide variant | not provided [RCV000955654] | Chr1:6098496 [GRCh38] Chr1:6158556 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.263-7C>T | single nucleotide variant | not provided [RCV000912309] | Chr1:6073726 [GRCh38] Chr1:6133786 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 | copy number loss | not provided [RCV001005057] | Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=) | single nucleotide variant | not provided [RCV001707948] | Chr1:6098502 [GRCh38] Chr1:6158562 [GRCh37] Chr1:1p36.31 |
benign |
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) | copy number loss | Harel-Yoon syndrome [RCV001254115] | Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23 |
likely pathogenic |
NM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln) | single nucleotide variant | Inborn genetic diseases [RCV002543016]|Seizure [RCV001291655] | Chr1:6051649 [GRCh38] Chr1:6111709 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 | copy number loss | Chromosome 1p36 deletion syndrome [RCV001535693] | Chr1:2420003..8155935 [GRCh37] Chr1:1p36.32-36.23 |
not provided |
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 | copy number loss | not provided [RCV001832902] | Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13 |
pathogenic |
NC_000001.10:g.(?_6046195)_(6101952_?)dup | duplication | Nephronophthisis [RCV002026178] | Chr1:6046195..6101952 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NC_000001.10:g.(?_5923325)_(6537631_?)del | deletion | Nephronophthisis [RCV001972790] | Chr1:5923325..6537631 [GRCh37] Chr1:1p36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 | copy number loss | Chromosome 1p36 deletion syndrome [RCV002279763] | Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) | copy number loss | Chromosome 1p36 deletion syndrome, proximal [RCV002280717] | Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1 | copy number loss | not provided [RCV002473853] | Chr1:5505039..7027995 [GRCh37] Chr1:1p36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 | copy number loss | not provided [RCV002473951] | Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NM_001199862.2(KCNAB2):c.22G>A (p.Glu8Lys) | single nucleotide variant | Inborn genetic diseases [RCV002902220] | Chr1:6051558 [GRCh38] Chr1:6111618 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.21C>G (p.Ser7Arg) | single nucleotide variant | Inborn genetic diseases [RCV002682007] | Chr1:6051557 [GRCh38] Chr1:6111617 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.31C>T (p.Arg11Trp) | single nucleotide variant | Inborn genetic diseases [RCV002734093] | Chr1:6051567 [GRCh38] Chr1:6111627 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.112C>T (p.Arg38Trp) | single nucleotide variant | Inborn genetic diseases [RCV002703829] | Chr1:6051648 [GRCh38] Chr1:6111708 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.1121A>G (p.Asn374Ser) | single nucleotide variant | Inborn genetic diseases [RCV002822756] | Chr1:6097320 [GRCh38] Chr1:6157380 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.661A>G (p.Met221Val) | single nucleotide variant | Inborn genetic diseases [RCV002708803] | Chr1:6094414 [GRCh38] Chr1:6154474 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.787G>A (p.Ala263Thr) | single nucleotide variant | Inborn genetic diseases [RCV002651998] | Chr1:6095377 [GRCh38] Chr1:6155437 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.994C>T (p.Arg332Cys) | single nucleotide variant | Inborn genetic diseases [RCV002747543] | Chr1:6096681 [GRCh38] Chr1:6156741 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.710G>A (p.Arg237His) | single nucleotide variant | Inborn genetic diseases [RCV002808699] | Chr1:6094463 [GRCh38] Chr1:6154523 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.59A>G (p.Glu20Gly) | single nucleotide variant | Inborn genetic diseases [RCV002879049] | Chr1:6051595 [GRCh38] Chr1:6111655 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.1009C>A (p.Leu337Met) | single nucleotide variant | Inborn genetic diseases [RCV002679726] | Chr1:6096696 [GRCh38] Chr1:6156756 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.1187T>G (p.Ile396Ser) | single nucleotide variant | Inborn genetic diseases [RCV003212947] | Chr1:6098513 [GRCh38] Chr1:6158573 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.574C>T (p.Arg192Cys) | single nucleotide variant | Inborn genetic diseases [RCV003194856] | Chr1:6090448 [GRCh38] Chr1:6150508 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.199C>T (p.Arg67Cys) | single nucleotide variant | Inborn genetic diseases [RCV003206855] | Chr1:6051735 [GRCh38] Chr1:6111795 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NC_000001.10:g.4481271_20530242del | deletion | Chromosome 1p36 deletion syndrome [RCV003159574] | Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
NM_001199862.2(KCNAB2):c.124G>A (p.Ala42Thr) | single nucleotide variant | Inborn genetic diseases [RCV003217340] | Chr1:6051660 [GRCh38] Chr1:6111720 [GRCh37] Chr1:1p36.31 |
uncertain significance |
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454) | copy number loss | Chromosome 1p36 deletion syndrome [RCV003319574] | Chr1:1957148..6553454 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 | copy number loss | not provided [RCV003482961] | Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.31(chr1:5990505-6059229)x1 | copy number loss | not provided [RCV003483016] | Chr1:5990505..6059229 [GRCh37] Chr1:1p36.31 |
uncertain significance |
NM_001199862.2(KCNAB2):c.425+6G>A | single nucleotide variant | not provided [RCV003412715] | Chr1:6085254 [GRCh38] Chr1:6145314 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_001199862.2(KCNAB2):c.425+1065G>A | single nucleotide variant | not provided [RCV003412716] | Chr1:6086313 [GRCh38] Chr1:6146373 [GRCh37] Chr1:1p36.31 |
benign |
NM_001199862.2(KCNAB2):c.732+44C>T | single nucleotide variant | not provided [RCV003412717] | Chr1:6094529 [GRCh38] Chr1:6154589 [GRCh37] Chr1:1p36.31 |
likely benign |
NM_003636.4(KCNAB2):c.17C>T (p.Thr6Met) | single nucleotide variant | not provided [RCV003412714] | Chr1:6040585 [GRCh38] Chr1:6100645 [GRCh37] Chr1:1p36.31 |
likely benign |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 | copy number gain | Trisomy 12p [RCV003447845] | Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
G34855 |
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KCNAB2_2542 |
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G16215 |
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SHGC-74152 |
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SHGC-74145 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 296 | 986 | 347 | 49 | 1815 | 41 | 614 | 221 | 2723 | 113 | 127 | 788 | 14 | 425 | 242 | |||
Low | 2139 | 2001 | 1374 | 571 | 135 | 420 | 3726 | 1953 | 995 | 298 | 1324 | 823 | 158 | 1 | 779 | 2530 | 5 | 2 |
Below cutoff | 3 | 2 | 4 | 4 | 1 | 4 | 16 | 22 | 11 | 8 | 6 | 1 | 16 |
RefSeq Transcripts | NG_047091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001199860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001199861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001199862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001199863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_172130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005263514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011542321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011542322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF029749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF044253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK124696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK131252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW327942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC130413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI907219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR542264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR542287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS252321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS252323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA340179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U33429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000164247 ⟹ ENSP00000164247 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000341524 ⟹ ENSP00000340824 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000352527 ⟹ ENSP00000318772 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000378083 ⟹ ENSP00000367323 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000378092 ⟹ ENSP00000367332 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000378097 ⟹ ENSP00000367337 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000378111 ⟹ ENSP00000367351 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000389632 ⟹ ENSP00000374283 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000428161 ⟹ ENSP00000400285 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000435937 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000445501 ⟹ ENSP00000398395 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000458166 ⟹ ENSP00000396167 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000459822 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000462676 ⟹ ENSP00000465785 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000472700 ⟹ ENSP00000464860 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000478098 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000481789 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000493807 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000602612 ⟹ ENSP00000473602 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652845 ⟹ ENSP00000499643 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652911 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000653262 ⟹ ENSP00000499434 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000653635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654144 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655548 ⟹ ENSP00000499615 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655703 ⟹ ENSP00000499237 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655748 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656198 ⟹ ENSP00000499563 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656607 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656746 ⟹ ENSP00000499461 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657222 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658691 ⟹ ENSP00000499474 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658883 ⟹ ENSP00000499302 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661248 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662147 ⟹ ENSP00000499337 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662363 ⟹ ENSP00000499349 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662815 ⟹ ENSP00000499260 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663169 ⟹ ENSP00000499749 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663419 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663671 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665338 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666163 ⟹ ENSP00000499370 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666299 ⟹ ENSP00000499596 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668559 ⟹ ENSP00000499361 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668706 ⟹ ENSP00000499564 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669250 ⟹ ENSP00000499485 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671076 ⟹ ENSP00000499307 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671676 ⟹ ENSP00000499496 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001199860 ⟹ NP_001186789 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001199861 ⟹ NP_001186790 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001199862 ⟹ NP_001186791 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001199863 ⟹ NP_001186792 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003636 ⟹ NP_003627 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_172130 ⟹ NP_742128 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005263514 ⟹ XP_005263571 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011542321 ⟹ XP_011540623 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011542322 ⟹ XP_011540624 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017002620 ⟹ XP_016858109 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047432866 ⟹ XP_047288822 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432867 ⟹ XP_047288823 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432870 ⟹ XP_047288826 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432872 ⟹ XP_047288828 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432878 ⟹ XP_047288834 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339293 ⟹ XP_054195268 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339294 ⟹ XP_054195269 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339295 ⟹ XP_054195270 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339296 ⟹ XP_054195271 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339297 ⟹ XP_054195272 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339298 ⟹ XP_054195273 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339299 ⟹ XP_054195274 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339300 ⟹ XP_054195275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001186789 | (Get FASTA) | NCBI Sequence Viewer |
NP_001186790 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001186791 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001186792 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003627 | (Get FASTA) | NCBI Sequence Viewer | |
NP_742128 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005263571 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011540623 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011540624 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016858109 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288822 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288823 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288826 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288828 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288834 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195268 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195269 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195270 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195271 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195272 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195273 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195274 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195275 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB84170 | (Get FASTA) | NCBI Sequence Viewer |
AAB99859 | (Get FASTA) | NCBI Sequence Viewer | |
AAC50955 | (Get FASTA) | NCBI Sequence Viewer | |
AAI10352 | (Get FASTA) | NCBI Sequence Viewer | |
AAI26425 | (Get FASTA) | NCBI Sequence Viewer | |
AAI30414 | (Get FASTA) | NCBI Sequence Viewer | |
BAD18431 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82508 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82733 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98702 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98749 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35312 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35723 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54071 | (Get FASTA) | NCBI Sequence Viewer | |
CAG47060 | (Get FASTA) | NCBI Sequence Viewer | |
CAG47082 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ58415 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ58416 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71512 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71513 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71514 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71515 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000164247 | ||
ENSP00000164247.1 | |||
ENSP00000318772 | |||
ENSP00000318772.1 | |||
ENSP00000340824.2 | |||
ENSP00000367323 | |||
ENSP00000367323.3 | |||
ENSP00000367332 | |||
ENSP00000367332.2 | |||
ENSP00000367337 | |||
ENSP00000367337.1 | |||
ENSP00000367351 | |||
ENSP00000367351.2 | |||
ENSP00000374283.5 | |||
ENSP00000396167 | |||
ENSP00000396167.2 | |||
ENSP00000398395.2 | |||
ENSP00000400285 | |||
ENSP00000400285.2 | |||
ENSP00000464860.2 | |||
ENSP00000465785.2 | |||
ENSP00000473602 | |||
ENSP00000473602.1 | |||
ENSP00000499237.1 | |||
ENSP00000499260.1 | |||
ENSP00000499302.1 | |||
ENSP00000499307.1 | |||
ENSP00000499337.1 | |||
ENSP00000499349.1 | |||
ENSP00000499361 | |||
ENSP00000499361.1 | |||
ENSP00000499370 | |||
ENSP00000499370.1 | |||
ENSP00000499434.1 | |||
ENSP00000499461.1 | |||
ENSP00000499474.1 | |||
ENSP00000499485.1 | |||
ENSP00000499496 | |||
ENSP00000499496.1 | |||
ENSP00000499563.1 | |||
ENSP00000499564.1 | |||
ENSP00000499596.1 | |||
ENSP00000499615.1 | |||
ENSP00000499643.1 | |||
ENSP00000499749.1 | |||
GenBank Protein | Q13303 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003627 ⟸ NM_003636 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_742128 ⟸ NM_172130 |
- Peptide Label: | isoform 2 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001186790 ⟸ NM_001199861 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001186789 ⟸ NM_001199860 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001186791 ⟸ NM_001199862 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001186792 ⟸ NM_001199863 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B0AZM0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005263571 ⟸ XM_005263514 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011540623 ⟸ XM_011542321 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011540624 ⟸ XM_011542322 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016858109 ⟸ XM_017002620 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B0AZM0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000465785 ⟸ ENST00000462676 |
RefSeq Acc Id: | ENSP00000499349 ⟸ ENST00000662363 |
RefSeq Acc Id: | ENSP00000499337 ⟸ ENST00000662147 |
RefSeq Acc Id: | ENSP00000499260 ⟸ ENST00000662815 |
RefSeq Acc Id: | ENSP00000499749 ⟸ ENST00000663169 |
RefSeq Acc Id: | ENSP00000400285 ⟸ ENST00000428161 |
RefSeq Acc Id: | ENSP00000164247 ⟸ ENST00000164247 |
RefSeq Acc Id: | ENSP00000374283 ⟸ ENST00000389632 |
RefSeq Acc Id: | ENSP00000499596 ⟸ ENST00000666299 |
RefSeq Acc Id: | ENSP00000499370 ⟸ ENST00000666163 |
RefSeq Acc Id: | ENSP00000499643 ⟸ ENST00000652845 |
RefSeq Acc Id: | ENSP00000367351 ⟸ ENST00000378111 |
RefSeq Acc Id: | ENSP00000367332 ⟸ ENST00000378092 |
RefSeq Acc Id: | ENSP00000367337 ⟸ ENST00000378097 |
RefSeq Acc Id: | ENSP00000367323 ⟸ ENST00000378083 |
RefSeq Acc Id: | ENSP00000499434 ⟸ ENST00000653262 |
RefSeq Acc Id: | ENSP00000499361 ⟸ ENST00000668559 |
RefSeq Acc Id: | ENSP00000499564 ⟸ ENST00000668706 |
RefSeq Acc Id: | ENSP00000396167 ⟸ ENST00000458166 |
RefSeq Acc Id: | ENSP00000499237 ⟸ ENST00000655703 |
RefSeq Acc Id: | ENSP00000499615 ⟸ ENST00000655548 |
RefSeq Acc Id: | ENSP00000499485 ⟸ ENST00000669250 |
RefSeq Acc Id: | ENSP00000398395 ⟸ ENST00000445501 |
RefSeq Acc Id: | ENSP00000473602 ⟸ ENST00000602612 |
RefSeq Acc Id: | ENSP00000318772 ⟸ ENST00000352527 |
RefSeq Acc Id: | ENSP00000499461 ⟸ ENST00000656746 |
RefSeq Acc Id: | ENSP00000499563 ⟸ ENST00000656198 |
RefSeq Acc Id: | ENSP00000464860 ⟸ ENST00000472700 |
RefSeq Acc Id: | ENSP00000499302 ⟸ ENST00000658883 |
RefSeq Acc Id: | ENSP00000499474 ⟸ ENST00000658691 |
RefSeq Acc Id: | ENSP00000340824 ⟸ ENST00000341524 |
RefSeq Acc Id: | ENSP00000499307 ⟸ ENST00000671076 |
RefSeq Acc Id: | ENSP00000499496 ⟸ ENST00000671676 |
RefSeq Acc Id: | XP_047288822 ⟸ XM_047432866 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288826 ⟸ XM_047432870 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288828 ⟸ XM_047432872 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288834 ⟸ XM_047432878 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q5TG84 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288823 ⟸ XM_047432867 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195271 ⟸ XM_054339296 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195273 ⟸ XM_054339298 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195275 ⟸ XM_054339300 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195269 ⟸ XM_054339294 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195274 ⟸ XM_054339299 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B2R776 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195270 ⟸ XM_054339295 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A590UJJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195272 ⟸ XM_054339297 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q6ZNE4 (UniProtKB/Swiss-Prot), Q5TG83 (UniProtKB/Swiss-Prot), Q5TG82 (UniProtKB/Swiss-Prot), Q2YD85 (UniProtKB/Swiss-Prot), Q13303 (UniProtKB/Swiss-Prot), O43659 (UniProtKB/Swiss-Prot), B0AZR7 (UniProtKB/Swiss-Prot), A8K1A4 (UniProtKB/Swiss-Prot), A0AVM9 (UniProtKB/Swiss-Prot), Q99411 (UniProtKB/Swiss-Prot), A8K1X9 (UniProtKB/TrEMBL), B2R615 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195268 ⟸ XM_054339293 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B0AZM0 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q13303-F1-model_v2 | AlphaFold | Q13303 | 1-367 | view protein structure |
RGD ID: | 6853884 | ||||||||
Promoter ID: | EPDNEW_H107 | ||||||||
Type: | initiation region | ||||||||
Name: | KCNAB2_2 | ||||||||
Description: | potassium voltage-gated channel subfamily A regulatory beta subunit2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H109 EPDNEW_H110 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6785142 | ||||||||
Promoter ID: | HG_KWN:389 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000378087, NM_003636, NM_172130, OTTHUMT00000002120, OTTHUMT00000002193, UC001ALU.2 | ||||||||
Position: |
|
RGD ID: | 6785823 | ||||||||
Promoter ID: | HG_KWN:390 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000002121 | ||||||||
Position: |
|
RGD ID: | 6785820 | ||||||||
Promoter ID: | HG_KWN:391 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell | ||||||||
Transcripts: | ENST00000164247 | ||||||||
Position: |
|
RGD ID: | 6785828 | ||||||||
Promoter ID: | HG_KWN:392 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell | ||||||||
Transcripts: | OTTHUMT00000099315 | ||||||||
Position: |
|
RGD ID: | 6853888 | ||||||||
Promoter ID: | EPDNEW_H109 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | KCNAB2_3 | ||||||||
Description: | potassium voltage-gated channel subfamily A regulatory beta subunit2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H107 EPDNEW_H110 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6853890 | ||||||||
Promoter ID: | EPDNEW_H110 | ||||||||
Type: | initiation region | ||||||||
Name: | KCNAB2_1 | ||||||||
Description: | potassium voltage-gated channel subfamily A regulatory beta subunit2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H107 EPDNEW_H109 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6785830 | ||||||||
Promoter ID: | HG_KWN:393 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid, NB4 | ||||||||
Transcripts: | UC001ALY.1, UC009VLW.1 | ||||||||
Position: |
|
RGD ID: | 6785822 | ||||||||
Promoter ID: | HG_KWN:394 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000378083 | ||||||||
Position: |
|
RGD ID: | 6785827 | ||||||||
Promoter ID: | HG_KWN:395 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, NB4 | ||||||||
Transcripts: | OTTHUMT00000002822 | ||||||||
Position: |
|
RGD ID: | 6785825 | ||||||||
Promoter ID: | HG_KWN:396 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000002821 | ||||||||
Position: |
|
RGD ID: | 6785824 | ||||||||
Promoter ID: | HG_KWN:397 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000002820 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:6229 | AgrOrtholog |
COSMIC | KCNAB2 | COSMIC |
Ensembl Genes | ENSG00000069424 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000164247 | ENTREZGENE |
ENST00000164247.5 | UniProtKB/Swiss-Prot | |
ENST00000341524.6 | UniProtKB/TrEMBL | |
ENST00000352527 | ENTREZGENE | |
ENST00000352527.6 | UniProtKB/Swiss-Prot | |
ENST00000378083 | ENTREZGENE | |
ENST00000378083.8 | UniProtKB/Swiss-Prot | |
ENST00000378092 | ENTREZGENE | |
ENST00000378092.6 | UniProtKB/Swiss-Prot | |
ENST00000378097 | ENTREZGENE | |
ENST00000378097.6 | UniProtKB/Swiss-Prot | |
ENST00000378111 | ENTREZGENE | |
ENST00000378111.6 | UniProtKB/TrEMBL | |
ENST00000389632.9 | UniProtKB/TrEMBL | |
ENST00000428161 | ENTREZGENE | |
ENST00000428161.7 | UniProtKB/Swiss-Prot | |
ENST00000445501.6 | UniProtKB/TrEMBL | |
ENST00000458166 | ENTREZGENE | |
ENST00000458166.6 | UniProtKB/Swiss-Prot | |
ENST00000462676.3 | UniProtKB/TrEMBL | |
ENST00000472700.7 | UniProtKB/TrEMBL | |
ENST00000602612 | ENTREZGENE | |
ENST00000602612.5 | UniProtKB/Swiss-Prot | |
ENST00000652845.1 | UniProtKB/TrEMBL | |
ENST00000653262.1 | UniProtKB/TrEMBL | |
ENST00000655548.1 | UniProtKB/TrEMBL | |
ENST00000655703.1 | UniProtKB/TrEMBL | |
ENST00000656198.1 | UniProtKB/TrEMBL | |
ENST00000656746.1 | UniProtKB/TrEMBL | |
ENST00000658691.1 | UniProtKB/TrEMBL | |
ENST00000658883.1 | UniProtKB/TrEMBL | |
ENST00000662147.1 | UniProtKB/TrEMBL | |
ENST00000662363.1 | UniProtKB/TrEMBL | |
ENST00000662815.1 | UniProtKB/TrEMBL | |
ENST00000663169.1 | UniProtKB/TrEMBL | |
ENST00000666163 | ENTREZGENE | |
ENST00000666163.1 | UniProtKB/Swiss-Prot | |
ENST00000666299.1 | UniProtKB/TrEMBL | |
ENST00000668559 | ENTREZGENE | |
ENST00000668559.1 | UniProtKB/Swiss-Prot | |
ENST00000668706.1 | UniProtKB/TrEMBL | |
ENST00000669250.1 | UniProtKB/Swiss-Prot | |
ENST00000671076.1 | UniProtKB/TrEMBL | |
ENST00000671676 | ENTREZGENE | |
ENST00000671676.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.20.20.100 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000069424 | GTEx |
HGNC ID | HGNC:6229 | ENTREZGENE |
Human Proteome Map | KCNAB2 | Human Proteome Map |
InterPro | K_chnl_volt-dep_bsu_KCNAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
K_chnl_volt-dep_bsu_KCNAB-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_bsu_KCNAB2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NADP_OxRdtase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NADP_OxRdtase_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:8514 | UniProtKB/Swiss-Prot |
NCBI Gene | 8514 | ENTREZGENE |
OMIM | 601142 | OMIM |
PANTHER | PTHR43150 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
VOLTAGE-GATED POTASSIUM CHANNEL SUBUNIT BETA-2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Aldo_ket_red | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA373 | PharmGKB |
PRINTS | KCNAB2CHANEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KCNABCHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF51430 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A590UJ15_HUMAN | UniProtKB/TrEMBL |
A0A590UJ35_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ72_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ79_HUMAN | UniProtKB/TrEMBL | |
A0A590UJB6_HUMAN | UniProtKB/TrEMBL | |
A0A590UJB8_HUMAN | UniProtKB/TrEMBL | |
A0A590UJI8_HUMAN | UniProtKB/TrEMBL | |
A0A590UJJ4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UJK5_HUMAN | UniProtKB/TrEMBL | |
A0A590UJU1_HUMAN | UniProtKB/TrEMBL | |
A0A590UJU4_HUMAN | UniProtKB/TrEMBL | |
A0A590UJV4_HUMAN | UniProtKB/TrEMBL | |
A0A590UJX9_HUMAN | UniProtKB/TrEMBL | |
A0A590UJY1_HUMAN | UniProtKB/TrEMBL | |
A0A590UK89_HUMAN | UniProtKB/TrEMBL | |
A0A5F9UN28_HUMAN | UniProtKB/TrEMBL | |
A0AVM9 | ENTREZGENE | |
A8K1A4 | ENTREZGENE | |
A8K1X9 | ENTREZGENE, UniProtKB/TrEMBL | |
B0AZM0 | ENTREZGENE, UniProtKB/TrEMBL | |
B0AZR7 | ENTREZGENE | |
B2R615 | ENTREZGENE, UniProtKB/TrEMBL | |
B2R776 | ENTREZGENE, UniProtKB/TrEMBL | |
K7EIR5_HUMAN | UniProtKB/TrEMBL | |
K7EKU4_HUMAN | UniProtKB/TrEMBL | |
KCAB2_HUMAN | UniProtKB/Swiss-Prot | |
O43659 | ENTREZGENE | |
Q13303 | ENTREZGENE | |
Q2YD85 | ENTREZGENE | |
Q5TG78_HUMAN | UniProtKB/TrEMBL | |
Q5TG81_HUMAN | UniProtKB/TrEMBL | |
Q5TG82 | ENTREZGENE | |
Q5TG83 | ENTREZGENE | |
Q5TG84 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6FG22_HUMAN | UniProtKB/TrEMBL | |
Q6FG44_HUMAN | UniProtKB/TrEMBL | |
Q6ZNE4 | ENTREZGENE | |
Q99411 | ENTREZGENE | |
UniProt Secondary | A0AVM9 | UniProtKB/Swiss-Prot |
A8K1A4 | UniProtKB/Swiss-Prot | |
B0AZR7 | UniProtKB/Swiss-Prot | |
O43659 | UniProtKB/Swiss-Prot | |
Q2YD85 | UniProtKB/Swiss-Prot | |
Q5TG82 | UniProtKB/Swiss-Prot | |
Q5TG83 | UniProtKB/Swiss-Prot | |
Q6ZNE4 | UniProtKB/Swiss-Prot | |
Q99411 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | KCNAB2 | potassium voltage-gated channel subfamily A regulatory beta subunit 2 | potassium channel, voltage gated subfamily A regulatory beta subunit 2 | Symbol and/or name change | 5135510 | APPROVED | |
2015-01-20 | KCNAB2 | potassium channel, voltage gated subfamily A regulatory beta subunit 2 | potassium voltage-gated channel, shaker-related subfamily, beta member 2 | Symbol and/or name change | 5135510 | APPROVED |