Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.A353_L354del1

KCNC1

187 papers

RefSeq Summary

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in ...

Pfam Domains

BTB_2aa 10–104UCSCBTB/POZ domain
Ion_transaa 189–447UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 1

HGNC Alias Symbol

Kv3.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001112741.2
p.A353_L354del1
c.1058_1060delCCT
Surrounding Variants
1 paper
NM_001112741.2
p.V356M
c.1066G>A
1 paper
NM_001112741.2
p.M362L
c.1084A>C
1 paper
NM_001112741.2
p.M362L
c.1084A>T
1 paper
NM_001112741.2
p.I363V
c.1087A>G
9 papers
NM_001112741.2
p.R339*
c.1015C>T
1 paper
NM_001112741.2
p.R368W
c.1102A>T
1 paper
NM_001112741.2
p.R368K
c.1103G>A
1 paper
NM_001112741.2
p.T337M
c.1010C>T
1 paper
NM_001112741.2
p.I369V
c.1105A>G
1 paper
NM_001112741.2
p.G370V
c.1109G>T
1 paper
NM_001112741.2
p.P373A
c.1117C>G
1 paper
NM_001112741.2
p.R332W
c.994C>T
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