Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.P296_R299Fs

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.P296_R299Fs
c.886_896delinsTFs
Surrounding Variants
2 papers
NM_133497.4
p.P296delFs
c.887_888delCA
3 papers
NM_133497.4
p.D297fs
c.889_890fs
1 paper
NM_133497.4
p.D297insFs
c.890_891ins16
1 paper
NM_133497.4
p.D297_I301delFs
c.889_901del13
1 paper
NM_133497.4
p.R299P
c.896G>C
1 paper
NM_133497.4
p.R299insFs
c.896_897insT
2 papers
NM_133497.4
p.G292S
c.874G>A
1 paper
NM_133497.4
p.G292_D297insFs
c.874_889dup16
1 paper
NM_133497.4
p.L302_E303delFs
c.906_907delGG
2 papers
NM_133497.4
p.S289*
c.866C>A
1 paper
NM_133497.4
p.S289W
c.866C>G
1 paper
NM_133497.4
p.G290delFs
c.870delG
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