Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.P253P

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
2 papers
NM_133497.4
p.P253P
c.759A>G
Surrounding Variants
1 paper
NM_133497.4
p.F254L
c.760T>C
1 paper
NM_133497.4
p.F254_S255ins8
c.760_764ins24
2 papers
NM_133497.4
p.P253fs
c.757_758fs
1 paper
NM_133497.4
p.F254L
c.762C>A
1 paper
NM_133497.4
p.F254L
c.762C>G
3 papers
NM_133497.4
p.P253delFs
c.758delC
1 paper
NM_133497.4
p.K252_P253insFs
c.756_757insG
4 papers
NM_133497.4
p.K252*
c.754A>T
3 papers
NM_133497.4
p.S256A
c.766T>G
1 paper
NM_133497.4
p.A259_A265ins2
c.775_795dup21
6 papers
NM_133497.4
p.S256W
c.767C>G
2 papers
NM_133497.4
p.S256S
c.768G>T
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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."