Varaico: Literature-Extracted Genetic Variants

Gene:KCNAB3
Variant:p.A233insFs

KCNAB3

41 papers

RefSeq Summary

This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional ...

Pfam Domains

Aldo_ket_redaa 92–396UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A regulatory beta subunit 3

HGNC Alias Symbols

AKR6A9; KCNA3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004732.4
p.A233insFs
c.697dupG
Surrounding Variants
2 papers
NM_004732.4
p.A233delFs
c.697delC
2 papers
NM_004732.4
p.A233fs
c.697_698fs
1 paper
NM_004732.4
p.A233fs
c.697_698fs
1 paper
NM_004732.4
p.R230Q
c.689G>A
1 paper
NM_004732.4
p.L224fs
c.670_671fs
1 paper
NM_004732.4
p.E209Splc
c.626-66C>G
1 paper
NM_004732.4
p.R244T
c.731G>C
1 paper
NM_004732.4
p.A256V
c.767C>T
2 papers
NM_004732.4
p.H258R
c.773A>G
1 paper
NM_004732.4
p.E267D
c.801G>T
1 paper
NM_004732.4
p.E267D
c.801G>C
1 paper
NM_004732.4
p.E272Q
c.814G>C
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