Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3

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
1–12 of 160 variants
50 papers
NM_004977.3
p.R420H
c.1259G>A
40 papers
NM_004977.3
p.R423H
c.1268G>A
34 papers
NM_004977.3
p.F448L
c.1342T>C
33 papers
NM_004977.3
p.F448L
c.1344C>G
33 papers
NM_004977.3
p.F448L
c.1344C>A
14 papers
NM_004977.3
p.D63G
c.188A>G
10 papers
NM_004977.3
p.G592R
c.1774G>C
10 papers
NM_004977.3
p.G592R
c.1774G>A
8 papers
NM_004977.3
p.T428I
c.1283C>T
5 papers
NM_004977.3
p.S591G
c.1771A>G
4 papers
NM_004977.3
p.R366H
c.1097G>A
3 papers
NM_004977.3
p.D129N
c.385G>A
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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."