Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.P345L

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.P345L
c.1034C>T
Surrounding Variants
1 paper
NM_133497.4
p.P345insFs
c.1035dupG
1 paper
NM_133497.4
p.L348P
c.1043T>C
2 papers
NM_133497.4
p.V341del1
c.1021_1022delGTG
1 paper
NM_133497.4
p.L351V
c.1051C>G
1 paper
NM_133497.4
p.D339_A342delFs
c.1015_1025del11
5 papers
NM_133497.4
p.D339_A342del0
c.1016_1024del9
2 papers
NM_133497.4
p.F355L
c.1063T>C
1 paper
NM_133497.4
p.F355L
c.1065C>A
1 paper
NM_133497.4
p.F355L
c.1065C>G
1 paper
NM_133497.4
p.L335del1
c.1003_1004delCTC
1 paper
NM_133497.4
p.A334fs
c.1000_1001fs
4 papers
NM_133497.4
p.A334delFs
c.1001delC
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