Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R540H

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.R540H
c.1619G>A
Surrounding Variants
1 paper
NM_001112741.2
p.G538G
c.1614C>A
1 paper
NM_001112741.2
p.G544R
c.1630G>A
1 paper
NM_001112741.2
p.G544R
c.1630G>C
1 paper
NM_001112741.2
p.P545L
c.1634C>T
1 paper
NM_001112741.2
p.G552R
c.1654G>A
1 paper
NM_001112741.2
p.G552R
c.1654G>C
1 paper
NM_001112741.2
p.E553D
c.1659G>C
1 paper
NM_001112741.2
p.E553D
c.1659G>T
1 paper
NM_001112741.2
p.P558R
c.1673C>G
1 paper
NM_001112741.2
p.P520H
c.1559C>A
1 paper
NM_001112741.2
p.A515V
c.1544C>T
6 papers
NM_001112741.2
p.A513V
c.1538C>T
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