Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1
Variant:p.R204*

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
4 papers
NM_006003.3
p.R204*
c.610C>T
Surrounding Variants
1 paper
NM_006003.3
p.D203N
c.607G>A
1 paper
NM_006003.3
p.P208S
c.622C>T
1 paper
NM_006003.3
p.G215A
c.644G>C
1 paper
NM_006003.3
p.C217F
c.650G>T
1 paper
NM_006003.3
p.E185K
c.553G>A
3 papers
NM_006003.3
p.P224S
c.670C>T
1 paper
NM_006003.3
p.I225insFs
c.674dupT
1 paper
NM_006003.3
p.R179I
c.536G>T
1 paper
NM_006003.3
p.R177C
c.529C>T
1 paper
NM_006003.3
p.Y234N
c.700T>A
1 paper
NM_006003.3
p.Y234C
c.701A>G
1 paper
NM_006003.3
p.P173L
c.518C>T
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