Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.T216I

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.T216I
c.647C>T
Surrounding Variants
1 paper
NM_004974.4
p.T216A
c.646A>G
1 paper
NM_004974.4
p.S217Y
c.650C>A
2 papers
NM_004974.4
p.Q214*
c.640C>T
3 papers
NM_004974.4
p.Q214K
c.640C>A
1 paper
NM_004974.4
p.T219K
c.656C>A
9 papers
NM_004974.4
p.Q213*
c.637C>T
1 paper
NM_004974.4
p.Y212*
c.636C>G
1 paper
NM_004974.4
p.Y212*
c.636C>A
2 papers
NM_004974.4
p.D220A
c.659A>C
1 paper
NM_004974.4
p.D220E
c.660C>G
1 paper
NM_004974.4
p.D220E
c.660C>A
1 paper
NM_004974.4
p.G211V
c.632G>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."