Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.E87K

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.E87K
c.259G>A
Surrounding Variants
2 papers
NM_133497.4
p.P86L
c.257C>T
1 paper
NM_133497.4
p.G88D
c.263G>A
1 paper
NM_133497.4
p.K85insFs
c.254_255ins8
1 paper
NM_133497.4
p.P89T
c.265C>A
1 paper
NM_133497.4
p.A84V
c.251C>T
1 paper
NM_133497.4
p.P92fs
c.274_275fs
2 papers
NM_133497.4
p.A94insFs
c.280dupG
3 papers
NM_133497.4
p.E80D
c.240G>C
3 papers
NM_133497.4
p.E80D
c.240G>T
1 paper
NM_133497.4
p.A94fs
c.280_281fs
6 papers
NM_133497.4
p.E80*
c.238G>T
3 papers
NM_133497.4
p.Q76*
c.226C>T
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