Varaico: Literature-Extracted Genetic Variants

UQCRC2

127 papers

RefSeq Summary

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the m...

Pfam Domains

Peptidase_M16aa 48–194UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 199–378UCSCPeptidase M16 inactive domain

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase core protein 2

HGNC Alias Symbols

QCR2; UQCR2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

9 papers

NM_003366.4

p.R183W

c.547C>T

4 papers

NM_003366.4

p.R183Q

c.548G>A

4 papers

NM_003366.4

p.G222A

c.665G>C

3 papers

NM_003366.4

p.L89P

c.266T>C

3 papers

NM_003366.4

p.R127W

c.379C>T

3 papers

NM_003366.4

p.Q363*

c.1087C>T

3 papers

NM_003366.4

p.A427A

c.1281G>A

3 papers

NM_003366.4

p.L444M

c.1330T>A

3 papers

NM_003366.4

p.T447K

c.1340C>A

2 papers

NM_003366.4

p.L89fs

c.265_266fs

2 papers

NM_003366.4

p.F146S

c.437T>C

2 papers

NM_003366.4

p.G245S

c.733G>A