Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R43Q

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004974.4
p.R43Q
c.128G>A
Surrounding Variants
1 paper
NM_004974.4
p.R43L
c.128G>T
1 paper
NM_004974.4
p.R43W
c.127C>T
1 paper
NM_004974.4
p.E45Q
c.133G>C
1 paper
NM_004974.4
p.G41A
c.122G>C
1 paper
NM_004974.4
p.E45A
c.134A>C
1 paper
NM_004974.4
p.T46A
c.136A>G
1 paper
NM_004974.4
p.S40A
c.118T>G
1 paper
NM_004974.4
p.T46T
c.138C>A
1 paper
NM_004974.4
p.Q47P
c.140A>C
1 paper
NM_004974.4
p.Q47H
c.141G>T
1 paper
NM_004974.4
p.Q47H
c.141G>C
1 paper
NM_004974.4
p.L48fs
c.142_143fs
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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."