Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.S591G

KCNC3

201 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 90–184UCSCBTB/POZ domain
Ion_transaa 289–550UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 3

HGNC Previous Symbol

SCA13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_004977.3
p.S591G
c.1771A>G
Surrounding Variants
10 papers
NM_004977.3
p.G592R
c.1774G>C
10 papers
NM_004977.3
p.G592R
c.1774G>A
1 paper
NM_004977.3
p.P587L
c.1760C>T
1 paper
NM_004977.3
p.P585del1
c.1753_1754delGGG
1 paper
NM_004977.3
p.P581L
c.1742C>T
1 paper
NM_004977.3
p.Y574N
c.1720T>A
1 paper
NM_004977.3
p.S571S
c.1713G>A
1 paper
NM_004977.3
p.S571L
c.1712C>T
1 paper
NM_004977.3
p.P569L
c.1706C>T
1 paper
NM_004977.3
p.P569R
c.1706C>G
1 paper
NM_004977.3
p.L623P
c.1868T>C
1 paper
NM_004977.3
p.R625S
c.1875G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."