Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1
Variant:p.V72Splc

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
2 papers
NM_006003.3
p.V72Splc
c.215-1G>C
Surrounding Variants
1 paper
NM_006003.3
p.H80Q
c.240C>A
3 papers
NM_006003.3
p.I83V
c.247A>G
1 paper
NM_006003.3
p.K84R
c.251A>G
2 papers
NM_006003.3
p.D87N
c.259G>A
1 paper
NM_006003.3
p.S89P
c.265T>C
1 paper
NM_006003.3
p.S89T
c.265T>A
1 paper
NM_006003.3
p.S89_E90del1
c.266_268delCAG
1 paper
NM_006003.3
p.R92G
c.274C>G
1 paper
NM_006003.3
p.R92H
c.275G>A
1 paper
NM_006003.3
p.R93H
c.278G>A
1 paper
NM_006003.3
p.V120V
c.360A>T
1 paper
NM_006003.3
p.V123A
c.368T>C
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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."