Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.P647A

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.P647A
c.1939C>G
Surrounding Variants
1 paper
NM_004977.3
p.P647P
c.1941G>A
2 papers
NM_004977.3
p.P645R
c.1934C>G
2 papers
NM_004977.3
p.G643S
c.1927G>A
1 paper
NM_004977.3
p.P638S
c.1912C>T
2 papers
NM_004977.3
p.R658Q
c.1973G>A
1 paper
NM_004977.3
p.R625_I633del9
c.1873_1898del27
1 paper
NM_004977.3
p.A628A
c.1884G>A
2 papers
NM_004977.3
p.G626W
c.1876G>T
1 paper
NM_004977.3
p.G626R
c.1876G>C
1 paper
NM_004977.3
p.G626R
c.1876G>A
1 paper
NM_004977.3
p.R625S
c.1875G>T
1 paper
NM_004977.3
p.R625S
c.1875G>C
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