Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.T201S

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.T201S
c.601A>T
Surrounding Variants
1 paper
NM_004974.4
p.T201S
c.602C>G
1 paper
NM_004974.4
p.S198N
c.593G>A
1 paper
NM_004974.4
p.T204S
c.610A>T
2 papers
NM_004974.4
p.S198G
c.592A>G
2 papers
NM_004974.4
p.G197fs
c.589_590fs
2 papers
NM_004974.4
p.G197delFs
c.590delC
1 paper
NM_004974.4
p.T204S
c.611C>G
3 papers
NM_004974.4
p.G197D
c.590G>A
1 paper
NM_004974.4
p.Y205H
c.613T>C
1 paper
NM_004974.4
p.Y205N
c.613T>A
1 paper
NM_004974.4
p.G197C
c.589G>T
1 paper
NM_004974.4
p.Y205F
c.614A>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."