Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.A82T

KCNC2

91 papers

RefSeq Summary

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these sub...

Pfam Domains

BTB_2aa 86–151UCSCBTB/POZ domain
Ion_transaa 228–484UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 2

HGNC Alias Symbol

Kv3.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139137.4
p.A82T
c.244G>A
Surrounding Variants
1 paper
NM_139137.4
p.A82V
c.245C>T
1 paper
NM_139137.4
p.R88H
c.263G>A
3 papers
NM_139137.4
p.G75V
c.224G>T
1 paper
NM_139137.4
p.G89D
c.266G>A
1 paper
NM_139137.4
p.P64L
c.191C>T
1 paper
NM_139137.4
p.R106Q
c.317G>A
1 paper
NM_139137.4
p.G109G
c.327C>A
1 paper
NM_139137.4
p.F111F
c.333C>T
1 paper
NM_139137.4
p.G51V
c.152G>T
1 paper
NM_139137.4
p.D45A
c.134A>C
1 paper
NM_139137.4
p.R119H
c.356G>A
1 paper
NM_139137.4
p.T120T
c.360C>T
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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."