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.V402A

c.1205T>C

Surrounding Variants

2 papers

NM_003366.4

p.G397R

c.1189G>A

2 papers

NM_003366.4

p.G397R

c.1189G>C

1 paper

NM_003366.4

p.V412V

c.1236C>T

1 paper

NM_003366.4

p.Q415*

c.1243C>T

2 papers

NM_003366.4

p.V419M

c.1255G>A

1 paper

NM_003366.4

p.Y382C

c.1145A>G

3 papers

NM_003366.4

p.A427A

c.1281G>A

1 paper

NM_003366.4

p.K429R

c.1286A>G

1 paper

NM_003366.4

p.K429N

c.1287G>C

3 papers

NM_003366.4

p.L444M

c.1330T>A

3 papers

NM_003366.4

p.T447K

c.1340C>A

1 paper

NM_003366.4

p.L453delFs

c.1358delT