Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.P405A

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.P405A
c.1213C>G
Surrounding Variants
5 papers
NM_004974.4
p.P405S
c.1213C>T
43 papers
NM_004974.4
p.P405L
c.1214C>T
1 paper
NM_004974.4
p.P405R
c.1214C>G
1 paper
NM_004974.4
p.L404L
c.1212A>G
1 paper
NM_004974.4
p.L404S
c.1211T>C
2 papers
NM_004974.4
p.L404I
c.1210T>A
1 paper
NM_004974.4
p.V406F
c.1216G>T
1 paper
NM_004974.4
p.V406I
c.1216G>A
1 paper
NM_004974.4
p.A403V
c.1208C>T
1 paper
NM_004974.4
p.A403G
c.1208C>G
1 paper
NM_004974.4
p.A403S
c.1207G>T
2 papers
NM_004974.4
p.P407S
c.1219C>T
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