Varaico: Literature-Extracted Genetic Variants

Gene:COQ5
Variant:p.L197F

COQ5

46 papers

Pfam Domains

Ubie_methyltranaa 57–326UCSCubiE/COQ5 methyltransferase family

Gene Aliases

HGNC Name

coenzyme Q5, methyltransferase

HGNC Alias Symbol

MGC4767

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032314.4
p.L197F
c.591A>T
Surrounding Variants
1 paper
NM_032314.4
p.L197F
c.591A>C
1 paper
NM_032314.4
p.L193fs
c.577_578fs
1 paper
NM_032314.4
p.R220W
c.658C>T
1 paper
NM_032314.4
p.R220Q
c.659G>A
2 papers
NM_032314.4
p.Q227_A228Splc
c.681+1G>A
2 papers
NM_032314.4
p.Q227_A228Splc
c.682-7T>G
1 paper
NM_032314.4
p.Q230*
c.688C>T
1 paper
NM_032314.4
p.E246*
c.736G>T
1 paper
NM_032314.4
p.F242_L245delFs
c.726_735del10
1 paper
NM_032314.4
p.Q282Q
c.846G>A
1 paper
NM_032314.4
p.R289Q
c.866G>A
1 paper
NM_032314.4
p.P292L
c.875C>T
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