Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.A228V

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.A228V
c.683C>T
Surrounding Variants
1 paper
NM_004977.3
p.E227V
c.680A>T
1 paper
NM_004977.3
p.E227G
c.680A>G
1 paper
NM_004977.3
p.G231S
c.691G>A
3 papers
NM_004977.3
p.A213_N215ins1
c.637_645dup9
1 paper
NM_004977.3
p.A217T
c.649G>A
1 paper
NM_004977.3
p.G209_A211del0
c.625_633del9
1 paper
NM_004977.3
p.L245P
c.734T>C
1 paper
NM_004977.3
p.A204V
c.611C>T
1 paper
NM_004977.3
p.E203E
c.609G>A
1 paper
NM_004977.3
p.L199delFs
c.595_596delAG
1 paper
NM_004977.3
p.E196K
c.586G>A
1 paper
NM_004977.3
p.R193R
c.579C>G
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