Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.P407R

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.P407R
c.1220C>G
Surrounding Variants
2 papers
NM_004974.4
p.P407L
c.1220C>T
1 paper
NM_004974.4
p.P407P
c.1221T>G
2 papers
NM_004974.4
p.P407S
c.1219C>T
6 papers
NM_004974.4
p.P407A
c.1219C>G
1 paper
NM_004974.4
p.V408F
c.1222G>T
3 papers
NM_004974.4
p.V408L
c.1222G>C
1 paper
NM_004974.4
p.V408G
c.1223T>G
19 papers
NM_004974.4
p.V408A
c.1223T>C
1 paper
NM_004974.4
p.V406F
c.1216G>T
1 paper
NM_004974.4
p.V406I
c.1216G>A
2 papers
NM_004974.4
p.I409F
c.1225A>T
4 papers
NM_004974.4
p.I409L
c.1225A>C
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