Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.G396R

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.G396R
c.1186G>C
Surrounding Variants
2 papers
NM_133497.4
p.G396R
c.1186G>A
1 paper
NM_133497.4
p.G396*
c.1186G>T
1 paper
NM_133497.4
p.R398H
c.1193G>A
2 papers
NM_133497.4
p.A399V
c.1196C>T
4 papers
NM_133497.4
p.F400delFs
c.1199delT
1 paper
NM_133497.4
p.R392H
c.1175G>A
2 papers
NM_133497.4
p.F400fs
c.1198_1199fs
1 paper
NM_133497.4
p.A391V
c.1172C>T
1 paper
NM_133497.4
p.L390R
c.1169T>G
1 paper
NM_133497.4
p.T403M
c.1208C>T
6 papers
NM_133497.4
p.L404P
c.1211T>C
2 papers
NM_133497.4
p.R383H
c.1148G>A
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