Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.P141L

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.P141L
c.422C>T
Surrounding Variants
1 paper
NM_003365.3
p.K138M
c.413A>T
1 paper
NM_003365.3
p.Y132F
c.395A>T
1 paper
NM_003365.3
p.Y132H
c.394T>C
1 paper
NM_003365.3
p.L120_N121ins12
c.358_362ins36
1 paper
NM_003365.3
p.M116I
c.348G>T
2 papers
NM_003365.3
p.M116I
c.348G>C
1 paper
NM_003365.3
p.M116I
c.348G>A
5 papers
NM_003365.3
p.E110D
c.330G>T
5 papers
NM_003365.3
p.E110D
c.330G>C
1 paper
NM_003365.3
p.S107N
c.320G>A
1 paper
NM_003365.3
p.R104W
c.310C>T
2 papers
NM_003365.3
p.L146F
c.436C>T
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