Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.C482Y

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.C482Y
c.1445G>A
Surrounding Variants
2 papers
NM_004974.4
p.C482S
c.1445G>C
2 papers
NM_004974.4
p.C482S
c.1444T>A
1 paper
NM_004974.4
p.N481insFs
c.1442dupA
1 paper
NM_004974.4
p.T483A
c.1447A>G
1 paper
NM_004974.4
p.A480T
c.1438G>A
1 paper
NM_004974.4
p.T479I
c.1436C>T
1 paper
NM_004974.4
p.T479A
c.1435A>G
1 paper
NM_004974.4
p.N488S
c.1463A>G
1 paper
NM_004974.4
p.Y489F
c.1466A>T
2 papers
NM_004974.4
p.Y489C
c.1466A>G
1 paper
NM_004974.4
p.R473G
c.1417A>G
1 paper
NM_004974.4
p.K494Q
c.1480A>C
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