Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.Y377C

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
3 papers
NM_004974.4
p.Y377C
c.1130A>G
Surrounding Variants
2 papers
NM_004974.4
p.Y377F
c.1130A>T
1 paper
NM_004974.4
p.Y377H
c.1129T>C
1 paper
NM_004974.4
p.G378R
c.1132G>C
1 paper
NM_004974.4
p.G378R
c.1132G>A
1 paper
NM_004974.4
p.G378V
c.1133G>T
1 paper
NM_004974.4
p.G376A
c.1127G>C
1 paper
NM_004974.4
p.D379H
c.1135G>C
2 papers
NM_004974.4
p.D379N
c.1135G>A
1 paper
NM_004974.4
p.T374I
c.1121C>T
23 papers
NM_004974.4
p.T374A
c.1120A>G
1 paper
NM_004974.4
p.V381A
c.1142T>C
4 papers
NM_004974.4
p.T373I
c.1118C>T
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