Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.Q146H

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.Q146H
c.438G>T
Surrounding Variants
1 paper
NM_004974.4
p.Q146H
c.438G>C
4 papers
NM_004974.4
p.R147K
c.440G>A
1 paper
NM_004974.4
p.Q146*
c.436C>T
1 paper
NM_004974.4
p.Q148K
c.442C>A
2 papers
NM_004974.4
p.F145I
c.433T>A
1 paper
NM_004974.4
p.E144E
c.432G>A
1 paper
NM_004974.4
p.W150R
c.448T>C
1 paper
NM_004974.4
p.W150R
c.448T>A
1 paper
NM_004974.4
p.W150C
c.450G>T
1 paper
NM_004974.4
p.W150C
c.450G>C
1 paper
NM_004974.4
p.L151H
c.452T>A
1 paper
NM_004974.4
p.P141H
c.422C>A
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