Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R314H

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.R314H
c.941G>A
Surrounding Variants
1 paper
NM_001112741.2
p.V312A
c.935T>C
1 paper
NM_001112741.2
p.V312I
c.934G>A
1 paper
NM_001112741.2
p.V312F
c.934G>T
3 papers
NM_001112741.2
p.R317S
c.949C>A
5 papers
NM_001112741.2
p.R317H
c.950G>A
1 paper
NM_001112741.2
p.R311H
c.932G>A
46 papers
NM_001112741.2
p.R320H
c.959G>A
1 paper
NM_001112741.2
p.V306M
c.916G>A
1 paper
NM_001112741.2
p.D305D
c.915C>T
1 paper
NM_001112741.2
p.T325P
c.973A>C
1 paper
NM_001112741.2
p.A302V
c.905C>T
1 paper
NM_001112741.2
p.S299F
c.896C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."