Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1
Variant:p.V14D

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
3 papers
NM_006003.3
p.V14D
c.41T>A
Surrounding Variants
1 paper
NM_006003.3
p.A12T
c.34G>A
1 paper
NM_006003.3
p.F11L
c.33C>G
1 paper
NM_006003.3
p.T18S
c.52A>T
1 paper
NM_006003.3
p.S8S
c.24A>G
1 paper
NM_006003.3
p.R7H
c.20G>A
1 paper
NM_006003.3
p.V22G
c.65T>G
1 paper
NM_006003.3
p.G24R
c.70G>C
1 paper
NM_006003.3
p.V4V
c.12A>T
1 paper
NM_006003.3
p.V4E
c.11T>A
1 paper
NM_006003.3
p.L26Q
c.77T>A
1 paper
NM_006003.3
p.L2M
c.4T>A
1 paper
NM_006003.3
p.M1K
c.2T>A
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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."