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

3 papers

NM_003366.4

p.L89P

c.266T>C

Surrounding Variants

2 papers

NM_003366.4

p.L89fs

c.265_266fs

1 paper

NM_003366.4

p.L83insFs

c.248dupT

1 paper

NM_003366.4

p.Y71F

c.212A>T

1 paper

NM_003366.4

p.G68_E72delFs

c.204_214del11

1 paper

NM_003366.4

p.L63S

c.188T>C

1 paper

NM_003366.4

p.S59*

c.176C>A

1 paper

NM_003366.4

p.S59*

c.176C>G

1 paper

NM_003366.4

p.P57S

c.169C>T

1 paper

NM_003366.4

p.V48M

c.142G>A

1 paper

NM_003366.4

p.I99L

c.295A>C

1 paper

NM_003366.4

p.I99L

c.295A>T

1 paper

NM_003366.4

p.L4Q

c.11T>A