Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.M307I

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.M307I
c.921G>C
Surrounding Variants
1 paper
NM_133497.4
p.M307I
c.921G>A
1 paper
NM_133497.4
p.M307_L308insFs
c.921_922ins4
1 paper
NM_133497.4
p.M307I
c.921G>T
1 paper
NM_133497.4
p.M307R
c.920T>G
6 papers
NM_133497.4
p.E306*
c.916G>T
3 papers
NM_133497.4
p.G311R
c.931G>C
1 paper
NM_133497.4
p.G311D
c.932G>A
1 paper
NM_133497.4
p.L302_E303delFs
c.906_907delGG
1 paper
NM_133497.4
p.R299P
c.896G>C
1 paper
NM_133497.4
p.R299insFs
c.896_897insT
1 paper
NM_133497.4
p.L318delFs
c.952delC
1 paper
NM_133497.4
p.D297insFs
c.890_891ins16
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