Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.Q315H

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
1 paper
NM_004974.4
p.Q315H
c.945G>C
Surrounding Variants
1 paper
NM_004974.4
p.Q315H
c.945G>T
1 paper
NM_004974.4
p.G313D
c.938G>A
1 paper
NM_004974.4
p.G313C
c.937G>T
1 paper
NM_004974.4
p.S311S
c.933C>A
1 paper
NM_004974.4
p.Q319insFs
c.957dupG
5 papers
NM_004974.4
p.T320I
c.959C>T
4 papers
NM_004974.4
p.L321F
c.961C>T
5 papers
NM_004974.4
p.H310R
c.929A>G
1 paper
NM_004974.4
p.H310P
c.929A>C
4 papers
NM_004974.4
p.H310Y
c.928C>T
1 paper
NM_004974.4
p.H310D
c.928C>G
2 papers
NM_004974.4
p.K322R
c.965A>G
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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."