Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.P267R

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
3 papers
NM_003365.3
p.P267R
c.800C>G
Surrounding Variants
3 papers
NM_003365.3
p.R269H
c.806G>A
1 paper
NM_003365.3
p.T271P
c.811A>C
1 paper
NM_003365.3
p.G252_E259del0
c.755_775del21
2 papers
NM_003365.3
p.L250L
c.750C>T
1 paper
NM_003365.3
p.A246T
c.736G>A
1 paper
NM_003365.3
p.R276H
c.827G>A
1 paper
NM_003365.3
p.G295S
c.883G>A
2 papers
NM_003365.3
p.N301S
c.902A>G
1 paper
NM_003365.3
p.N308S
c.923A>G
1 paper
NM_003365.3
p.I310M
c.930C>G
10 papers
NM_003365.3
p.I311L
c.931A>C
17 papers
NM_003365.3
p.Y314S
c.941A>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."