Varaico: Literature-Extracted Genetic Variants

Gene:KCNV1

KCNV1

50 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

BTB_2aa 41–150UCSCBTB/POZ domain
Ion_transaa 209–438UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily V member 1

HGNC Alias Symbol

Kv8.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
5 papers
NM_014379.4
p.V214I
c.640G>A
1 paper
NM_014379.4
p.M1K
c.2T>A
1 paper
NM_014379.4
p.L18M
c.52C>A
1 paper
NM_014379.4
p.A56S
c.166G>T
1 paper
NM_014379.4
p.D93N
c.277G>A
1 paper
NM_014379.4
p.A109V
c.326C>T
1 paper
NM_014379.4
p.Y155delFs
c.464delT
1 paper
NM_014379.4
p.T164T
c.492T>G
1 paper
NM_014379.4
p.E179Q
c.535G>C
1 paper
NM_014379.4
p.Q182K
c.544C>A
1 paper
NM_014379.4
p.Q182Q
c.546G>A
1 paper
NM_014379.4
p.R193C
c.577C>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."