Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.G197delFs

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.G197delFs
c.590delC
Surrounding Variants
2 papers
NM_004974.4
p.G197fs
c.589_590fs
3 papers
NM_004974.4
p.G197D
c.590G>A
2 papers
NM_004974.4
p.S198G
c.592A>G
1 paper
NM_004974.4
p.G197C
c.589G>T
1 paper
NM_004974.4
p.S198N
c.593G>A
2 papers
NM_004974.4
p.H196R
c.587A>G
1 paper
NM_004974.4
p.H196D
c.586C>G
1 paper
NM_004974.4
p.M195I
c.585G>T
1 paper
NM_004974.4
p.M195I
c.585G>C
1 paper
NM_004974.4
p.M195I
c.585G>A
1 paper
NM_004974.4
p.L182_D194del13
c.544_581del39
1 paper
NM_004974.4
p.T201S
c.601A>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."