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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UQCR11

Variant:p.W24*

UQCR11

10 papers

RefSeq Summary

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding f...

Pfam Domains

UCR_6-4kDaa 1–55UCSCUbiquinol-cytochrome C reductase complex, 6.4kD protein

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase, complex III subunit XI

HGNC Alias Symbol

QCR10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:1599539 C>T

NM_006830.4

p.W24*

c.72G>A

UCR_6-4kD

Exome: 0.0% (AC=3, hom=0)Genome: n/a7 overlapping SVs

Surrounding Variants

1 paper

chr19:1599540 C>T

NM_006830.4

p.W24*

c.71G>A

UCR_6-4kD

exact variant not in gnomAD7 overlapping SVs

1 paper

chr19:1599555 G>A

NM_006830.4

p.P19L

c.56C>T

UCR_6-4kD

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr19:1599497 C>A

NM_006830.4

p.W38C

c.114G>T

UCR_6-4kD

exact variant not in gnomAD7 overlapping SVs

1 paper

chr19:1599497 C>G

NM_006830.4

p.W38C

c.114G>C

UCR_6-4kD

Exome: 0.0% (AC=12, hom=1)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr19:1599481 A>G

NM_006830.4

p.W44R

c.130T>C

UCR_6-4kD

exact variant not in gnomAD7 overlapping SVs

1 paper

chr19:1599481 A>T

NM_006830.4

p.W44R

c.130T>A

UCR_6-4kD

Exome: 0.0% (AC=12, hom=1)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr19:1605388 G>T

NM_006830.4

p.P8T

c.22C>A

UCR_6-4kD

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr19:1605390 C>A

NM_006830.4

p.G7V

c.20G>T

UCR_6-4kD

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr19:1605390 C>T

NM_006830.4

p.G7D

c.20G>A

UCR_6-4kD

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=19, hom=0)7 overlapping SVs

1 paper

chr19:1605402 G>C

NM_006830.4

p.T3S

c.8C>G

UCR_6-4kD

Exome: 0.0% (AC=143, hom=1)Genome: 0.0% (AC=13, hom=0)7 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."