Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.L138fs

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
3 papers
NM_133497.4
p.L138fs
c.412_413fs
Surrounding Variants
2 papers
NM_133497.4
p.S137_L138delFs
c.411_414del4
2 papers
NM_133497.4
p.C139*
c.417C>A
23 papers
NM_133497.4
p.E143*
c.427G>T
1 paper
NM_133497.4
p.T146_D147delFs
c.438_441del4
8 papers
NM_133497.4
p.Q145*
c.433C>T
1 paper
NM_133497.4
p.T130I
c.389C>T
1 paper
NM_133497.4
p.T130P
c.388A>C
2 papers
NM_133497.4
p.D147E
c.441C>A
2 papers
NM_133497.4
p.D147E
c.441C>G
1 paper
NM_133497.4
p.E148K
c.442G>A
9 papers
NM_133497.4
p.E148*
c.442G>T
2 papers
NM_133497.4
p.Y149delFs
c.445_446delTA
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."