Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.I418T

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.I418T
c.1253T>C
Surrounding Variants
1 paper
NM_133497.4
p.G421D
c.1262G>A
1 paper
NM_133497.4
p.I422T
c.1265T>C
1 paper
NM_133497.4
p.Q409H
c.1227G>C
1 paper
NM_133497.4
p.Q409H
c.1227G>T
1 paper
NM_133497.4
p.A428D
c.1283C>A
1 paper
NM_133497.4
p.S431F
c.1292C>T
6 papers
NM_133497.4
p.L404P
c.1211T>C
1 paper
NM_133497.4
p.T403M
c.1208C>T
1 paper
NM_133497.4
p.D435N
c.1303G>A
2 papers
NM_133497.4
p.F400fs
c.1198_1199fs
1 paper
NM_133497.4
p.P437S
c.1309C>T
4 papers
NM_133497.4
p.F400delFs
c.1199delT
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