Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E273Q

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.E273Q
c.817G>C
Surrounding Variants
1 paper
NM_004974.4
p.G271V
c.812G>T
1 paper
NM_004974.4
p.A275V
c.824C>T
1 paper
NM_004974.4
p.T269I
c.806C>T
1 paper
NM_004974.4
p.Y266F
c.797A>T
1 paper
NM_004974.4
p.D280N
c.838G>A
1 paper
NM_004974.4
p.A281S
c.841G>T
2 papers
NM_004974.4
p.A281T
c.841G>A
2 papers
NM_004974.4
p.A281V
c.842C>T
1 paper
NM_004974.4
p.Q282*
c.844C>T
25 papers
NM_004974.4
p.I263T
c.788T>C
1 paper
NM_004974.4
p.I263V
c.787A>G
3 papers
NM_004974.4
p.A262V
c.785C>T
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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."