Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.Q357R

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
4 papers
NM_004974.4
p.Q357R
c.1070A>G
Surrounding Variants
1 paper
NM_004974.4
p.Q357P
c.1070A>C
1 paper
NM_004974.4
p.Q357H
c.1071G>T
1 paper
NM_004974.4
p.Q357H
c.1071G>C
1 paper
NM_004974.4
p.S356C
c.1067C>G
1 paper
NM_004974.4
p.E355D
c.1065G>T
1 paper
NM_004974.4
p.E355D
c.1065G>C
1 paper
NM_004974.4
p.R354P
c.1061G>C
2 papers
NM_004974.4
p.R354Q
c.1061G>A
1 paper
NM_004974.4
p.R354*
c.1060C>T
3 papers
NM_004974.4
p.P362A
c.1084C>G
1 paper
NM_004974.4
p.D352G
c.1055A>G
1 paper
NM_004974.4
p.D352H
c.1054G>C
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