Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.M255L

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.M255L
c.763A>T
Surrounding Variants
1 paper
NM_004974.4
p.M255L
c.763A>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.I254N
c.761T>A
1 paper
NM_004974.4
p.N256H
c.766A>C
1 paper
NM_004974.4
p.N256I
c.767A>T
1 paper
NM_004974.4
p.T252S
c.755C>G
1 paper
NM_004974.4
p.T252S
c.754A>T
2 papers
NM_004974.4
p.T252A
c.754A>G
1 paper
NM_004974.4
p.I258N
c.773T>A
2 papers
NM_004974.4
p.F251S
c.752T>C
1 paper
NM_004974.4
p.I257del1
c.769_770delGAT
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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."