Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.V390E

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.V390E
c.1169T>A
Surrounding Variants
1 paper
NM_004974.4
p.V390G
c.1169T>G
1 paper
NM_004974.4
p.G391C
c.1171G>T
3 papers
NM_004974.4
p.S392F
c.1175C>T
1 paper
NM_004974.4
p.L393Q
c.1178T>A
1 paper
NM_004974.4
p.G387R
c.1159G>C
1 paper
NM_004974.4
p.G387R
c.1159G>A
2 papers
NM_004974.4
p.I385T
c.1154T>C
1 paper
NM_004974.4
p.A395V
c.1184C>T
1 paper
NM_004974.4
p.A395G
c.1184C>G
1 paper
NM_004974.4
p.I396T
c.1187T>C
1 paper
NM_004974.4
p.T384S
c.1151C>G
1 paper
NM_004974.4
p.T384S
c.1150A>T
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