Varaico: Literature-Extracted Genetic Variants

Gene:COQ5
Variant:p.E57Q

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.E57Q
c.169G>C
Surrounding Variants
1 paper
NM_032314.4
p.S60fs
c.178_179fs
1 paper
NM_032314.4
p.V59_S60delFs
c.177_178delAC
3 papers
NM_032314.4
p.E51V
c.152A>T
1 paper
NM_032314.4
p.E63E
c.189G>A
1 paper
NM_032314.4
p.A50P
c.148G>C
1 paper
NM_032314.4
p.G66G
c.198C>T
3 papers
NM_032314.4
p.E46K
c.136G>A
1 paper
NM_032314.4
p.S44S
c.132C>T
1 paper
NM_032314.4
p.L43F
c.129G>T
1 paper
NM_032314.4
p.L43F
c.129G>C
1 paper
NM_032314.4
p.G28E
c.83G>A
1 paper
NM_032314.4
p.R22L
c.65G>T
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