Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.D184delFs

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.D184delFs
c.551_552delGT
Surrounding Variants
1 paper
NM_139137.4
p.G199R
c.595G>C
1 paper
NM_139137.4
p.G199R
c.595G>A
9 papers
NM_139137.4
p.D167Y
c.499G>T
1 paper
NM_139137.4
p.D202_G203delFs
c.606_607delCG
1 paper
NM_139137.4
p.R207C
c.619C>T
2 papers
NM_139137.4
p.R207H
c.620G>A
1 paper
NM_139137.4
p.W208C
c.624G>T
1 paper
NM_139137.4
p.W208C
c.624G>C
1 paper
NM_139137.4
p.D161A
c.482A>C
4 papers
NM_139137.4
p.F219S
c.656T>C
2 papers
NM_139137.4
p.D144E
c.432C>G
2 papers
NM_139137.4
p.D144E
c.432C>A
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