Varaico: Literature-Extracted Genetic Variants

Gene:KCNAB3
Variant:p.A136G

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
1 paper
NM_004732.4
p.A136G
c.407C>G
Surrounding Variants
2 papers
NM_004732.4
p.R187C
c.559C>T
1 paper
NM_004732.4
p.I195T
c.584T>C
1 paper
NM_004732.4
p.C205G
c.613T>G
1 paper
NM_004732.4
p.V113M
c.337G>A
1 paper
NM_004732.4
p.E209Splc
c.626-66C>G
1 paper
NM_004732.4
p.G102C
c.304G>T
1 paper
NM_004732.4
p.T100I
c.299C>T
1 paper
NM_004732.4
p.L224fs
c.670_671fs
1 paper
NM_004732.4
p.R230Q
c.689G>A
1 paper
NM_004732.4
p.A233fs
c.697_698fs
2 papers
NM_004732.4
p.A233insFs
c.697dupG
2 papers
NM_004732.4
p.A233delFs
c.697delC
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