Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.P70_G71del1

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.P70_G71del1
c.209_211delCGG
Surrounding Variants
1 paper
NM_004977.3
p.E67*
c.199G>T
1 paper
NM_004977.3
p.M77I
c.231G>T
1 paper
NM_004977.3
p.M77I
c.231G>C
1 paper
NM_004977.3
p.M77I
c.231G>A
1 paper
NM_004977.3
p.R64Q
c.191G>A
14 papers
NM_004977.3
p.D63G
c.188A>G
1 paper
NM_004977.3
p.G83C
c.247G>T
1 paper
NM_004977.3
p.G84G
c.252T>G
1 paper
NM_004977.3
p.D86G
c.257A>G
1 paper
NM_004977.3
p.G54V
c.161G>T
1 paper
NM_004977.3
p.A53V
c.158C>T
2 papers
NM_004977.3
p.G47V
c.140G>T
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