Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.W46*

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.W46*
c.137G>A
Surrounding Variants
3 papers
NM_133497.4
p.W46*
c.138G>A
1 paper
NM_133497.4
p.G45S
c.133G>A
1 paper
NM_133497.4
p.Y51*
c.153T>A
1 paper
NM_133497.4
p.Y51*
c.153T>G
5 papers
NM_133497.4
p.Y53*
c.159C>A
5 papers
NM_133497.4
p.Y53*
c.159C>G
4 papers
NM_133497.4
p.Y54*
c.162C>A
4 papers
NM_133497.4
p.Y54*
c.162C>G
1 paper
NM_133497.4
p.S37S
c.111C>T
1 paper
NM_133497.4
p.S37F
c.110C>T
2 papers
NM_133497.4
p.R36H
c.107G>A
1 paper
NM_133497.4
p.R36C
c.106C>T
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