Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.V378_L381ins1

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.V378_L381ins1
c.1133_1141dup9
Surrounding Variants
1 paper
NM_133497.4
p.V378I
c.1132G>A
1 paper
NM_133497.4
p.V378A
c.1133T>C
1 paper
NM_133497.4
p.V378G
c.1133T>G
2 papers
NM_133497.4
p.V375M
c.1123G>A
1 paper
NM_133497.4
p.Q374*
c.1120C>T
1 paper
NM_133497.4
p.G373A
c.1118G>C
2 papers
NM_133497.4
p.R383H
c.1148G>A
4 papers
NM_133497.4
p.R383L
c.1148G>T
1 paper
NM_133497.4
p.K371*
c.1111A>T
1 paper
NM_133497.4
p.K371fs
c.1111_1112fs
1 paper
NM_133497.4
p.G370_L376delFs
c.1110_1128del19
1 paper
NM_133497.4
p.V369A
c.1106T>C
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