Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.Q42*

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
1 paper
NM_004977.3
p.Q42*
c.124C>T
Surrounding Variants
2 papers
NM_004977.3
p.Q41H
c.123G>T
2 papers
NM_004977.3
p.Q41H
c.123G>C
1 paper
NM_004977.3
p.Q45*
c.133C>T
1 paper
NM_004977.3
p.P37insFs
c.109dupC
1 paper
NM_004977.3
p.P37Q
c.110C>A
2 papers
NM_004977.3
p.G47V
c.140G>T
1 paper
NM_004977.3
p.P32S
c.94C>T
1 paper
NM_004977.3
p.A53V
c.158C>T
1 paper
NM_004977.3
p.G54V
c.161G>T
1 paper
NM_004977.3
p.P24L
c.71C>T
2 papers
NM_004977.3
p.P23P
c.69A>C
1 paper
NM_004977.3
p.P21A
c.61C>G
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