Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Y108fs

KCNV2

226 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 99–198UCSCBTB/POZ domain
Ion_transaa 259–504UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily V member 2

HGNC Alias Symbol

Kv8.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133497.4
p.Y108fs
c.322_323fs
Surrounding Variants
1 paper
NM_133497.4
p.Y108fs
c.322_323fs
11 papers
NM_133497.4
p.Q109*
c.325C>T
3 papers
NM_133497.4
p.Y108_L110delFs
c.323_329del7
2 papers
NM_133497.4
p.L110V
c.328C>G
1 paper
NM_133497.4
p.G105V
c.314G>T
1 paper
NM_133497.4
p.H106_D111del6
c.316_332del18
1 paper
NM_133497.4
p.G105R
c.313G>C
1 paper
NM_133497.4
p.G105fs
c.313_314fs
1 paper
NM_133497.4
p.V103A
c.308T>C
5 papers
NM_133497.4
p.C113*
c.339C>A
1 paper
NM_133497.4
p.G117S
c.349G>A
4 papers
NM_133497.4
p.P119_K120insFs
c.357_358insC
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."