Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.C229Y

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.C229Y
c.686G>A
Surrounding Variants
1 paper
NM_004974.4
p.I231T
c.692T>C
2 papers
NM_004974.4
p.T227I
c.680C>T
1 paper
NM_004974.4
p.W232R
c.694T>C
1 paper
NM_004974.4
p.W232R
c.694T>A
1 paper
NM_004974.4
p.E226D
c.678G>T
1 paper
NM_004974.4
p.E226D
c.678G>C
1 paper
NM_004974.4
p.W232S
c.695G>C
3 papers
NM_004974.4
p.E226K
c.676G>A
2 papers
NM_004974.4
p.F233S
c.698T>C
1 paper
NM_004974.4
p.V225I
c.673G>A
1 paper
NM_004974.4
p.S234P
c.700T>C
1 paper
NM_004974.4
p.F235V
c.703T>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."