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

2 papers

NM_003366.4

p.F146S

c.437T>C

Surrounding Variants

1 paper

NM_003366.4

p.R148S

c.442C>A

1 paper

NM_003366.4

p.K159Q

c.475A>C

1 paper

NM_003366.4

p.D131N

c.391G>A

1 paper

NM_003366.4

p.H172Splc

c.514+1G>A

3 papers

NM_003366.4

p.R127W

c.379C>T

1 paper

NM_003366.4

p.T113S

c.337A>T

9 papers

NM_003366.4

p.R183W

c.547C>T

4 papers

NM_003366.4

p.R183Q

c.548G>A

1 paper

NM_003366.4

p.N188T

c.563A>C

1 paper

NM_003366.4

p.S202L

c.605C>T

1 paper

NM_003366.4

p.E204_L205Splc

c.612+656T>A

1 paper

NM_003366.4

p.I99L

c.295A>C