Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.N414K

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
2 papers
NM_004974.4
p.N414K
c.1242C>A
Surrounding Variants
1 paper
NM_004974.4
p.N414N
c.1242C>T
2 papers
NM_004974.4
p.N414K
c.1242C>G
1 paper
NM_004974.4
p.Y415F
c.1244A>T
2 papers
NM_004974.4
p.F416L
c.1246T>C
2 papers
NM_004974.4
p.F416L
c.1248C>G
2 papers
NM_004974.4
p.F416L
c.1248C>A
2 papers
NM_004974.4
p.N412S
c.1235A>G
1 paper
NM_004974.4
p.Y417F
c.1250A>T
4 papers
NM_004974.4
p.Y417C
c.1250A>G
1 paper
NM_004974.4
p.F416delFs
c.1247_1248delGA
1 paper
NM_004974.4
p.H418R
c.1253A>G
1 paper
NM_004974.4
p.R419W
c.1255C>T
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