Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.T130P

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
1 paper
NM_133497.4
p.T130P
c.388A>C
Surrounding Variants
1 paper
NM_133497.4
p.T130I
c.389C>T
1 paper
NM_133497.4
p.A127delFs
c.381delC
6 papers
NM_133497.4
p.L126Q
c.377T>A
1 paper
NM_133497.4
p.R125S
c.373C>A
1 paper
NM_133497.4
p.R125C
c.373C>T
2 papers
NM_133497.4
p.S137_L138delFs
c.411_414del4
3 papers
NM_133497.4
p.L138fs
c.412_413fs
2 papers
NM_133497.4
p.C139*
c.417C>A
2 papers
NM_133497.4
p.K120fs
c.358_359fs
2 papers
NM_133497.4
p.K120fs
c.358_359fs
4 papers
NM_133497.4
p.P119_K120insFs
c.357_358insC
1 paper
NM_133497.4
p.G117S
c.349G>A
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