Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.A122V

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
2 papers
NM_004974.4
p.A122V
c.365C>T
Surrounding Variants
1 paper
NM_004974.4
p.A122T
c.364G>A
1 paper
NM_004974.4
p.E121G
c.362A>G
1 paper
NM_004974.4
p.E121A
c.362A>C
2 papers
NM_004974.4
p.E120A
c.359A>C
1 paper
NM_004974.4
p.E124D
c.372G>T
1 paper
NM_004974.4
p.E124D
c.372G>C
15 papers
NM_004974.4
p.M125K
c.374T>A
3 papers
NM_004974.4
p.G119A
c.356G>C
2 papers
NM_004974.4
p.G119E
c.356G>A
1 paper
NM_004974.4
p.F126L
c.378T>A
1 paper
NM_004974.4
p.E117D
c.351G>T
1 paper
NM_004974.4
p.E117D
c.351G>C
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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."