Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.H29P

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.H29P
c.86A>C
Surrounding Variants
1 paper
NM_004974.4
p.E30G
c.89A>G
1 paper
NM_004974.4
p.C31S
c.91T>A
1 paper
NM_004974.4
p.C31S
c.92G>C
2 papers
NM_004974.4
p.A27T
c.79G>A
1 paper
NM_004974.4
p.C32S
c.94T>A
1 paper
NM_004974.4
p.C32S
c.95G>C
1 paper
NM_004974.4
p.E33G
c.98A>G
1 paper
NM_004974.4
p.E33A
c.98A>C
2 papers
NM_004974.4
p.D24A
c.71A>C
1 paper
NM_004974.4
p.V35M
c.103G>A
2 papers
NM_004974.4
p.Y23C
c.68A>G
1 paper
NM_004974.4
p.S40A
c.118T>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."