Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.E20K

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.E20K
c.58G>A
Surrounding Variants
1 paper
NM_133497.4
p.T19_E20del2
c.55_59del6
2 papers
NM_133497.4
p.E22D
c.66G>C
1 paper
NM_133497.4
p.E22D
c.66G>T
1 paper
NM_133497.4
p.W16*
c.47G>A
1 paper
NM_133497.4
p.S24N
c.71G>A
1 paper
NM_133497.4
p.Q25*
c.73C>T
1 paper
NM_133497.4
p.Y13C
c.38A>G
9 papers
NM_133497.4
p.R27H
c.80G>A
7 papers
NM_133497.4
p.R7K
c.20G>A
1 paper
NM_133497.4
p.R7fs
c.19_20fs
1 paper
NM_133497.4
p.R7fs
c.19_20fs
3 papers
NM_133497.4
p.R8_W11del4
c.22_32del12
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