Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.M550V

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.M550V
c.1648A>G
Surrounding Variants
1 paper
NM_004977.3
p.S547S
c.1641G>A
1 paper
NM_004977.3
p.I531_M544del0
c.1592_1630del39
1 paper
NM_004977.3
p.V537I
c.1609G>A
3 papers
NM_004977.3
p.V535M
c.1603G>A
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.S571L
c.1712C>T
1 paper
NM_004977.3
p.S571S
c.1713G>A
1 paper
NM_004977.3
p.Y574N
c.1720T>A
2 papers
NM_004977.3
p.L518L
c.1554G>A
1 paper
NM_004977.3
p.P581L
c.1742C>T
1 paper
NM_004977.3
p.P585del1
c.1753_1754delGGG
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