Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2

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
1–12 of 117 variants
12 papers
NM_139137.4
p.V471L
c.1411G>C
9 papers
NM_139137.4
p.D167Y
c.499G>T
7 papers
NM_139137.4
p.C125W
c.375C>G
7 papers
NM_139137.4
p.T437A
c.1309A>G
5 papers
NM_139137.4
p.E135G
c.404A>G
5 papers
NM_139137.4
p.S333T
c.998G>C
4 papers
NM_139137.4
p.F219S
c.656T>C
4 papers
NM_139137.4
p.R351K
c.1052G>A
4 papers
NM_139137.4
p.T437N
c.1310C>A
4 papers
NM_139137.4
p.I465V
c.1393A>G
4 papers
NM_139137.4
p.V473A
c.1418T>C
4 papers
NM_139137.4
p.N530H
c.1588A>C
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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."