Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.S4P

UQCRC1

94 papers

Pfam Domains

Peptidase_M16aa 58–205UCSCInsulinase (Peptidase family M16)
Peptidase_M16_Caa 210–395UCSCPeptidase M16 inactive domain

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase core protein 1

HGNC Alias Symbols

D3S3191; QCR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003365.3
p.S4P
c.10T>C
Surrounding Variants
1 paper
NM_003365.3
p.V5A
c.14T>C
1 paper
NM_003365.3
p.A2V
c.5C>T
1 paper
NM_003365.3
p.V6F
c.16G>T
1 paper
NM_003365.3
p.M1insFs
c.2_3ins38
1 paper
NM_003365.3
p.C7S
c.19T>A
1 paper
NM_003365.3
p.M1insFs
c.1_2insT
1 paper
NM_003365.3
p.C7S
c.20G>C
1 paper
NM_003365.3
p.A9V
c.26C>T
1 paper
NM_003365.3
p.Q15E
c.43C>G
1 paper
NM_003365.3
p.R22C
c.64C>T
6 papers
NM_003365.3
p.S23_P24Splc
c.70-1G>A
6 papers
NM_003365.3
p.A25fs
c.73_74fs
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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."