Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R214H

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.R214H
c.641G>A
Surrounding Variants
1 paper
NM_001112741.2
p.T211A
c.631A>G
6 papers
NM_001112741.2
p.C208Y
c.623G>A
1 paper
NM_001112741.2
p.T222M
c.665C>T
1 paper
NM_001112741.2
p.T231A
c.691A>G
1 paper
NM_001112741.2
p.R237W
c.709C>T
1 paper
NM_001112741.2
p.E238D
c.714G>C
1 paper
NM_001112741.2
p.E238D
c.714G>T
1 paper
NM_001112741.2
p.V253M
c.757G>A
1 paper
NM_001112741.2
p.V254A
c.761T>C
1 paper
NM_001112741.2
p.W255_T257del3
c.763_770del9
1 paper
NM_001112741.2
p.N269S
c.806A>G
1 paper
NM_001112741.2
p.V271A
c.812T>C
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