Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.M171L

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.M171L
c.511A>T
Surrounding Variants
2 papers
NM_004974.4
p.M171V
c.511A>G
1 paper
NM_004974.4
p.M171L
c.511A>C
1 paper
NM_004974.4
p.M171T
c.512T>C
2 papers
NM_004974.4
p.M171I
c.513G>T
2 papers
NM_004974.4
p.M171I
c.513G>C
2 papers
NM_004974.4
p.M171I
c.513G>A
1 paper
NM_004974.4
p.S169A
c.505T>G
1 paper
NM_004974.4
p.I173V
c.517A>G
1 paper
NM_004974.4
p.L174V
c.520C>G
2 papers
NM_004974.4
p.L174M
c.520C>A
1 paper
NM_004974.4
p.I175I
c.525C>T
1 paper
NM_004974.4
p.I165R
c.494T>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."