Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1
Variant:p.Q31P

UQCRFS1

174 papers

Pfam Domains

Ubiq-Cytc-red_Naa 2–77UCSCUbiquinol-cytochrome c reductase 8 kDa, N-terminal
UCR_TMaa 80–145UCSCUbiquinol cytochrome reductase transmembrane region
Rieskeaa 152–264UCSCRieske [2Fe-2S] domain

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

HGNC Alias Symbols

RIS1; RIP1; UQCR5; RISP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006003.3
p.Q31P
c.92A>C
Surrounding Variants
1 paper
NM_006003.3
p.Q31Q
c.93G>A
1 paper
NM_006003.3
p.A32A
c.96C>A
1 paper
NM_006003.3
p.L26Q
c.77T>A
1 paper
NM_006003.3
p.T37I
c.110C>T
1 paper
NM_006003.3
p.T37insFs
c.111dupC
1 paper
NM_006003.3
p.G24R
c.70G>C
1 paper
NM_006003.3
p.Q40*
c.118C>T
1 paper
NM_006003.3
p.V22G
c.65T>G
1 paper
NM_006003.3
p.T18S
c.52A>T
1 paper
NM_006003.3
p.L45R
c.134T>G
3 papers
NM_006003.3
p.V14D
c.41T>A
1 paper
NM_006003.3
p.A12T
c.34G>A
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