Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L182M

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.L182M
c.544C>A
Surrounding Variants
1 paper
NM_004974.4
p.L182L
c.546G>C
1 paper
NM_004974.4
p.L182L
c.546G>A
1 paper
NM_004974.4
p.C181Y
c.542G>A
1 paper
NM_004974.4
p.F180del1
c.538_539delGAA
2 papers
NM_004974.4
p.E183K
c.547G>A
1 paper
NM_004974.4
p.F180C
c.539T>G
2 papers
NM_004974.4
p.T184I
c.551C>T
1 paper
NM_004974.4
p.T184K
c.551C>A
1 paper
NM_004974.4
p.V178delFs
c.533delA
2 papers
NM_004974.4
p.V178I
c.532G>A
4 papers
NM_004974.4
p.I177N
c.530T>A
2 papers
NM_004974.4
p.I187V
c.559A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."