Varaico: Literature-Extracted Genetic Variants

Gene:UQCRFS1
Variant:p.K155E

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.K155E
c.463A>G
Surrounding Variants
1 paper
NM_006003.3
p.K155T
c.464A>C
1 paper
NM_006003.3
p.D158insFs
c.472_473insC
1 paper
NM_006003.3
p.I152L
c.454A>C
1 paper
NM_006003.3
p.E161K
c.481G>A
1 paper
NM_006003.3
p.K163R
c.488A>G
1 paper
NM_006003.3
p.K163N
c.489G>T
1 paper
NM_006003.3
p.K163N
c.489G>C
1 paper
NM_006003.3
p.D145Y
c.433G>T
1 paper
NM_006003.3
p.V137I
c.409G>A
1 paper
NM_006003.3
p.P173L
c.518C>T
1 paper
NM_006003.3
p.V133I
c.397G>A
1 paper
NM_006003.3
p.R177C
c.529C>T
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