Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.K455*

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.K455*
c.1363A>T
Surrounding Variants
1 paper
NM_001112741.2
p.P453Q
c.1358C>A
2 papers
NM_001112741.2
p.K457fs
c.1369_1370fs
1 paper
NM_001112741.2
p.Q465H
c.1395G>C
1 paper
NM_001112741.2
p.Q465H
c.1395G>T
1 paper
NM_001112741.2
p.G467R
c.1399G>A
1 paper
NM_001112741.2
p.G467R
c.1399G>C
1 paper
NM_001112741.2
p.M441L
c.1321A>C
1 paper
NM_001112741.2
p.M441L
c.1321A>T
1 paper
NM_001112741.2
p.N470S
c.1409A>G
1 paper
NM_001112741.2
p.S474Y
c.1421C>A
1 paper
NM_001112741.2
p.V434I
c.1300G>A
3 papers
NM_001112741.2
p.V434L
c.1300G>C
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."