Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1

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
1–12 of 158 variants
46 papers
NM_001112741.2
p.R320H
c.959G>A
19 papers
NM_001112741.2
p.A421V
c.1262C>T
9 papers
NM_001112741.2
p.R339*
c.1015C>T
7 papers
NM_001112741.2
p.T399M
c.1196C>T
7 papers
NM_001112741.2
p.V432M
c.1294G>A
6 papers
NM_001112741.2
p.C208Y
c.623G>A
6 papers
NM_001112741.2
p.A513V
c.1538C>T
5 papers
NM_001112741.2
p.R317H
c.950G>A
5 papers
NM_001112741.2
p.V425M
c.1273G>A
4 papers
NM_001112741.2
p.L401V
c.1201C>G
4 papers
NM_001112741.2
p.Q492*
c.1474C>T
3 papers
NM_001112741.2
p.R317S
c.949C>A
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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."