Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.S333T

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
5 papers
NM_139137.4
p.S333T
c.998G>C
Surrounding Variants
1 paper
NM_139137.4
p.G331A
c.992G>C
2 papers
NM_139137.4
p.G331R
c.991G>C
2 papers
NM_139137.4
p.G331R
c.991G>A
1 paper
NM_139137.4
p.S336P
c.1006T>C
3 papers
NM_139137.4
p.V330M
c.988G>A
1 paper
NM_139137.4
p.F346F
c.1038C>T
1 paper
NM_139137.4
p.L347V
c.1039C>G
2 papers
NM_139137.4
p.R351W
c.1051A>T
4 papers
NM_139137.4
p.R351K
c.1052G>A
1 paper
NM_139137.4
p.R363H
c.1088G>A
1 paper
NM_139137.4
p.R363R
c.1089C>T
1 paper
NM_139137.4
p.V302G
c.905T>G
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