Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.P506P

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.P506P
c.1518T>A
Surrounding Variants
1 paper
NM_139137.4
p.E512*
c.1534G>T
1 paper
NM_139137.4
p.M515V
c.1543A>G
1 paper
NM_139137.4
p.S519T
c.1556G>C
2 papers
NM_139137.4
p.P490Q
c.1469C>A
1 paper
NM_139137.4
p.G527D
c.1580G>A
1 paper
NM_139137.4
p.A485T
c.1453G>A
4 papers
NM_139137.4
p.N530H
c.1588A>C
1 paper
NM_139137.4
p.S538*
c.1613C>G
1 paper
NM_139137.4
p.S538*
c.1613C>A
4 papers
NM_139137.4
p.V473A
c.1418T>C
12 papers
NM_139137.4
p.V471L
c.1411G>C
3 papers
NM_139137.4
p.P470S
c.1408C>T
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