Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.D75E

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.D75E
c.225C>G
Surrounding Variants
1 paper
NM_133497.4
p.D75E
c.225C>A
1 paper
NM_133497.4
p.E74_A78delins
c.222_232delinsGGTCACCACCACCTTGG
3 papers
NM_133497.4
p.Q76*
c.226C>T
1 paper
NM_133497.4
p.D75fs
c.223_224fs
1 paper
NM_133497.4
p.D75_Q77delFs
c.224_230del7
2 papers
NM_133497.4
p.E74D
c.222G>C
2 papers
NM_133497.4
p.E74D
c.222G>T
1 paper
NM_133497.4
p.E74_A78Fs
c.222_232delinsGFs
1 paper
NM_133497.4
p.E73Q
c.217G>C
3 papers
NM_133497.4
p.E73*
c.217G>T
6 papers
NM_133497.4
p.E80*
c.238G>T
3 papers
NM_133497.4
p.E80D
c.240G>C
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