Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.N256I

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.N256I
c.767A>T
Surrounding Variants
1 paper
NM_004974.4
p.N256H
c.766A>C
1 paper
NM_004974.4
p.M255R
c.764T>G
1 paper
NM_004974.4
p.M255K
c.764T>A
1 paper
NM_004974.4
p.M255L
c.763A>T
1 paper
NM_004974.4
p.M255L
c.763A>C
1 paper
NM_004974.4
p.I258N
c.773T>A
1 paper
NM_004974.4
p.I254N
c.761T>A
1 paper
NM_004974.4
p.I257del1
c.769_770delGAT
6 papers
NM_004974.4
p.M255_I258del0
c.765_773del9
1 paper
NM_004974.4
p.M255_I258del4
c.763_773del12
1 paper
NM_004974.4
p.D259A
c.776A>C
1 paper
NM_004974.4
p.I260V
c.778A>G
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