Varaico: Literature-Extracted Genetic Variants

Gene:KCNAB3

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
1–12 of 36 variants
2 papers
NM_004732.4
p.R187C
c.559C>T
2 papers
NM_004732.4
p.A233insFs
c.697dupG
2 papers
NM_004732.4
p.A233delFs
c.697delC
2 papers
NM_004732.4
p.A233fs
c.697_698fs
2 papers
NM_004732.4
p.H258R
c.773A>G
1 paper
NM_004732.4
p.E18G
c.53A>G
1 paper
NM_004732.4
p.D19N
c.55G>A
1 paper
NM_004732.4
p.P28P
c.84C>T
1 paper
NM_004732.4
p.G34G
c.102G>C
1 paper
NM_004732.4
p.G46G
c.138T>G
1 paper
NM_004732.4
p.K52R
c.155A>G
1 paper
NM_004732.4
p.R60Q
c.179G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."