Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Y149_F150del1

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
3 papers
NM_133497.4
p.Y149_F150del1
c.447_449delCTT
Surrounding Variants
2 papers
NM_133497.4
p.Y149fs
c.445_446fs
2 papers
NM_133497.4
p.Y149delFs
c.445_446delTA
1 paper
NM_133497.4
p.E148K
c.442G>A
9 papers
NM_133497.4
p.E148*
c.442G>T
2 papers
NM_133497.4
p.D147E
c.441C>A
2 papers
NM_133497.4
p.D147E
c.441C>G
4 papers
NM_133497.4
p.F151L
c.451T>C
3 papers
NM_133497.4
p.F151V
c.451T>G
4 papers
NM_133497.4
p.F151L
c.453C>A
4 papers
NM_133497.4
p.F151L
c.453C>G
2 papers
NM_133497.4
p.D152N
c.454G>A
2 papers
NM_133497.4
p.D152G
c.455A>G
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