Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.V230L

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.V230L
c.688G>T
Surrounding Variants
2 papers
NM_003365.3
p.V230L
c.688G>C
1 paper
NM_003365.3
p.K225*
c.673A>T
6 papers
NM_003365.3
p.D215H
c.643G>C
1 paper
NM_003365.3
p.E206K
c.616G>A
1 paper
NM_003365.3
p.G203W
c.607G>T
1 paper
NM_003365.3
p.L197V
c.589C>G
1 paper
NM_003365.3
p.D181fs
c.541_542fs
1 paper
NM_003365.3
p.D181delFs
c.541delC
1 paper
NM_003365.3
p.M172I
c.516G>T
1 paper
NM_003365.3
p.M172I
c.516G>C
1 paper
NM_003365.3
p.M172I
c.516G>A
2 papers
NM_003365.3
p.R170W
c.508C>T
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