Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.E169D

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.E169D
c.507G>C
Surrounding Variants
1 paper
NM_004977.3
p.E169D
c.507G>T
1 paper
NM_004977.3
p.I176F
c.526A>T
1 paper
NM_004977.3
p.D177N
c.529G>A
1 paper
NM_004977.3
p.K155delFs
c.465delC
1 paper
NM_004977.3
p.C185W
c.555C>G
1 paper
NM_004977.3
p.R193R
c.579C>G
1 paper
NM_004977.3
p.E196K
c.586G>A
1 paper
NM_004977.3
p.G142R
c.424G>A
1 paper
NM_004977.3
p.L199delFs
c.595_596delAG
1 paper
NM_004977.3
p.E203E
c.609G>A
1 paper
NM_004977.3
p.A204V
c.611C>T
1 paper
NM_004977.3
p.A132A
c.396C>A
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