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

Selected Variant

1 paper

NM_003366.4

p.S226R

c.678T>A

Surrounding Variants

1 paper

NM_003366.4

p.P228L

c.683C>T

2 papers

NM_003366.4

p.G245S

c.733G>A

1 paper

NM_003366.4

p.Y253H

c.757T>C

2 papers

NM_003366.4

p.R254H

c.761G>A

1 paper

NM_003366.4

p.R254L

c.761G>T

1 paper

NM_003366.4

p.R259*

c.775C>T

1 paper

NM_003366.4

p.V272L

c.814G>T

1 paper

NM_003366.4

p.E274G

c.821A>G

1 paper

NM_003366.4

p.V277A

c.830T>C

1 paper

NM_003366.4

p.V292F

c.874G>T

1 paper

NM_003366.4

p.R301W

c.901A>T

1 paper

NM_003366.4

p.R301K

c.902G>A