Varaico: Literature-Extracted Genetic Variants

Gene:UQCC3
Variant:p.G84R

UQCC3

26 papers

RefSeq Summary

Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in ...

Pfam Domains

UQCC3aa 1–91UCSCUbiquinol-cytochrome-c reductase complex assembly factor 3

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase complex assembly factor 3

HGNC Previous Symbol

C11orf83

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001085372.3
p.G84R
c.250G>C
Surrounding Variants
1 paper
NM_001085372.3
p.G86_A88del3
c.256_263del9
1 paper
NM_001085372.3
p.G86S
c.256G>A
5 papers
NM_001085372.3
p.G89S
c.265G>A
1 paper
NM_001085372.3
p.W76*
c.228G>A
1 paper
NM_001085372.3
p.W76*
c.227G>A
1 paper
NM_001085372.3
p.W76G
c.226T>G
1 paper
NM_001085372.3
p.T69I
c.206C>T
1 paper
NM_001085372.3
p.E66D
c.198G>C
1 paper
NM_001085372.3
p.E66D
c.198G>T
1 paper
NM_001085372.3
p.Q58*
c.172C>T
1 paper
NM_001085372.3
p.E41insFs
c.122dupA
1 paper
NM_001085372.3
p.R33W
c.97C>T
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