Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1

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
1–12 of 67 variants
4 papers
NM_006003.3
p.R204*
c.610C>T
3 papers
NM_006003.3
p.V14D
c.41T>A
3 papers
NM_006003.3
p.I83V
c.247A>G
3 papers
NM_006003.3
p.P224S
c.670C>T
2 papers
NM_006003.3
p.M1V
c.1A>G
2 papers
NM_006003.3
p.V72Splc
c.215-1G>C
2 papers
NM_006003.3
p.D87N
c.259G>A
1 paper
NM_006003.3
p.M1K
c.2T>A
1 paper
NM_006003.3
p.L2M
c.4T>A
1 paper
NM_006003.3
p.V4E
c.11T>A
1 paper
NM_006003.3
p.V4V
c.12A>T
1 paper
NM_006003.3
p.R7H
c.20G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."