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 | | |
|
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 | | |
|
|
|
|
|
|
|
|
KCNAB1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
KCNAB1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Kcnab1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Kcnab1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Kcnab1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
KCNAB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
KCNAB1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Kcnab1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
KCNAB1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Kcnab1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in KCNAB1
7050 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 3 | ||||||||
Low | 9 | 4 | 3 | 5 | 2 | 20 | 2 | 3 | 2 |
Below cutoff | 1 | 1 |
RefSeq Transcripts | NM_001105294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021068178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021068179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021068180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021068181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK390241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY866526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY866527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY866528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU929666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01122811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000027152 ⟹ ENSSSCP00000025628 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSSSCT00000028605 ⟹ ENSSSCP00000022660 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSSSCT00000056065 ⟹ ENSSSCP00000037547 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSSSCT00000067225 ⟹ ENSSSCP00000074484 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSSSCT00000082154 ⟹ ENSSSCP00000062045 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001105294 ⟹ NP_001098764 | ||||||||
RefSeq Status: | PROVISIONAL | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_021068178 ⟹ XP_020923837 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_021068179 ⟹ XP_020923838 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_021068180 ⟹ XP_020923839 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_021068181 ⟹ XP_020923840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001098764 | (Get FASTA) | NCBI Sequence Viewer |
XP_020923837 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020923838 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020923839 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020923840 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAY56385 | (Get FASTA) | NCBI Sequence Viewer |
AAY56386 | (Get FASTA) | NCBI Sequence Viewer | |
AAY56387 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000022660 | ||
ENSSSCP00000022660.2 | |||
ENSSSCP00000025628 | |||
ENSSSCP00000025628.3 | |||
ENSSSCP00000037547.2 | |||
ENSSSCP00000062045.1 | |||
ENSSSCP00000074484 | |||
ENSSSCP00000074484.1 | |||
ENSSSCP00005020065.1 | |||
ENSSSCP00005020159.1 | |||
ENSSSCP00005020225.1 | |||
ENSSSCP00015024837.1 | |||
ENSSSCP00015024926.1 | |||
ENSSSCP00025043247.1 | |||
ENSSSCP00025043340.1 | |||
ENSSSCP00025043449.1 | |||
ENSSSCP00025043526.1 | |||
ENSSSCP00025043611.1 | |||
ENSSSCP00030007101.1 | |||
ENSSSCP00030007103.1 | |||
ENSSSCP00030007106.1 | |||
ENSSSCP00030007110.1 | |||
ENSSSCP00030007115.1 | |||
ENSSSCP00035004786.1 | |||
ENSSSCP00040040698.1 | |||
ENSSSCP00040040836.1 | |||
ENSSSCP00045040257.1 | |||
ENSSSCP00050015865.1 | |||
ENSSSCP00050015869.1 | |||
ENSSSCP00050015872.1 | |||
ENSSSCP00050015876.1 | |||
ENSSSCP00050015884.1 | |||
ENSSSCP00055038901.1 | |||
ENSSSCP00055038985.1 | |||
ENSSSCP00055039080.1 | |||
ENSSSCP00055039257.1 | |||
ENSSSCP00055039419.1 | |||
ENSSSCP00065034796.1 | |||
ENSSSCP00070003136.1 | |||
ENSSSCP00070003153.1 | |||
ENSSSCP00070003158.1 | |||
ENSSSCP00070003161.1 | |||
ENSSSCP00070003171.1 |
RefSeq Acc Id: | XP_020923837 ⟸ XM_021068178 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1SL51 (UniProtKB/TrEMBL), I3LF21 (UniProtKB/TrEMBL), Q1EFL9 (UniProtKB/TrEMBL), A0A8D1BZL4 (UniProtKB/TrEMBL), A0A8D1FTL8 (UniProtKB/TrEMBL), A0A8D0TG29 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020923840 ⟸ XM_021068181 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8D1ZBN1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001098764 ⟸ NM_001105294 |
- UniProtKB: | Q1EFM0 (UniProtKB/TrEMBL), A0A4X1SL46 (UniProtKB/TrEMBL), I3LNF4 (UniProtKB/TrEMBL), A0A8D1KJU9 (UniProtKB/TrEMBL), A0A8D1M198 (UniProtKB/TrEMBL), A0A8D0U4W3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020923838 ⟸ XM_021068179 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D1ZBN1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020923839 ⟸ XM_021068180 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D1ZBN1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000025628 ⟸ ENSSSCT00000027152 |
RefSeq Acc Id: | ENSSSCP00000037547 ⟸ ENSSSCT00000056065 |
RefSeq Acc Id: | ENSSSCP00000022660 ⟸ ENSSSCT00000028605 |
RefSeq Acc Id: | ENSSSCP00000062045 ⟸ ENSSSCT00000082154 |
RefSeq Acc Id: | ENSSSCP00000074484 ⟸ ENSSSCT00000067225 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000025810 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005020681 | UniProtKB/TrEMBL | |
ENSSSCG00015045734 | UniProtKB/TrEMBL | |
ENSSSCG00025071124 | UniProtKB/TrEMBL | |
ENSSSCG00030011363 | UniProtKB/TrEMBL | |
ENSSSCG00035011200 | UniProtKB/TrEMBL | |
ENSSSCG00040066806 | UniProtKB/TrEMBL | |
ENSSSCG00045033501 | UniProtKB/TrEMBL | |
ENSSSCG00050028390 | UniProtKB/TrEMBL | |
ENSSSCG00055024510 | UniProtKB/TrEMBL | |
ENSSSCG00065058407 | UniProtKB/TrEMBL | |
ENSSSCG00070001877 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000027152 | ENTREZGENE |
ENSSSCT00000027152.4 | UniProtKB/TrEMBL | |
ENSSSCT00000028605 | ENTREZGENE | |
ENSSSCT00000028605.4 | UniProtKB/TrEMBL | |
ENSSSCT00000056065.3 | UniProtKB/TrEMBL | |
ENSSSCT00000067225 | ENTREZGENE | |
ENSSSCT00000067225.1 | UniProtKB/TrEMBL | |
ENSSSCT00000082154.2 | UniProtKB/TrEMBL | |
ENSSSCT00005032912.1 | UniProtKB/TrEMBL | |
ENSSSCT00005033073.1 | UniProtKB/TrEMBL | |
ENSSSCT00005033189.1 | UniProtKB/TrEMBL | |
ENSSSCT00015061853.1 | UniProtKB/TrEMBL | |
ENSSSCT00015062117.1 | UniProtKB/TrEMBL | |
ENSSSCT00025098331.1 | UniProtKB/TrEMBL | |
ENSSSCT00025098531.1 | UniProtKB/TrEMBL | |
ENSSSCT00025098756.1 | UniProtKB/TrEMBL | |
ENSSSCT00025098961.1 | UniProtKB/TrEMBL | |
ENSSSCT00025099137.1 | UniProtKB/TrEMBL | |
ENSSSCT00030015834.1 | UniProtKB/TrEMBL | |
ENSSSCT00030015841.1 | UniProtKB/TrEMBL | |
ENSSSCT00030015851.1 | UniProtKB/TrEMBL | |
ENSSSCT00030015865.1 | UniProtKB/TrEMBL | |
ENSSSCT00030015879.1 | UniProtKB/TrEMBL | |
ENSSSCT00035014078.1 | UniProtKB/TrEMBL | |
ENSSSCT00040092225.1 | UniProtKB/TrEMBL | |
ENSSSCT00040092502.1 | UniProtKB/TrEMBL | |
ENSSSCT00045057551.1 | UniProtKB/TrEMBL | |
ENSSSCT00050038281.1 | UniProtKB/TrEMBL | |
ENSSSCT00050038288.1 | UniProtKB/TrEMBL | |
ENSSSCT00050038298.1 | UniProtKB/TrEMBL | |
ENSSSCT00050038316.1 | UniProtKB/TrEMBL | |
ENSSSCT00050038332.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048741.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048838.1 | UniProtKB/TrEMBL | |
ENSSSCT00055048950.1 | UniProtKB/TrEMBL | |
ENSSSCT00055049160.1 | UniProtKB/TrEMBL | |
ENSSSCT00055049339.1 | UniProtKB/TrEMBL | |
ENSSSCT00065079980.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003785.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003804.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003810.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003813.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003824.1 | 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 | ssc:100125830 | 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 | A0A287A1E8_PIG | UniProtKB/TrEMBL |
A0A4X1SL46 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1SL51 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1SL57_PIG | UniProtKB/TrEMBL | |
A0A4X1SMB3_PIG | UniProtKB/TrEMBL | |
A0A4X1SMB8_PIG | UniProtKB/TrEMBL | |
A0A5G2QD41_PIG | UniProtKB/TrEMBL | |
A0A5G2RH71_PIG | UniProtKB/TrEMBL | |
A0A8D0J6S2_PIG | UniProtKB/TrEMBL | |
A0A8D0J9B9_PIG | UniProtKB/TrEMBL | |
A0A8D0LLX9_PIG | UniProtKB/TrEMBL | |
A0A8D0TG29 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0U4W3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1BZL4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1FTL8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1KJU9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1M198 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1ZBN1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8X9AET0_PIG | UniProtKB/TrEMBL | |
I3LF21 | ENTREZGENE | |
I3LNF4 | ENTREZGENE | |
Q1EFL9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q1EFM0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q1EFM1_PIG | UniProtKB/TrEMBL | |
UniProt Secondary | I3LF21 | UniProtKB/TrEMBL |
I3LNF4 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:89328 | 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 |