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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYB5R3

CYB5R3

140 papers

RefSeq Summary

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythr...

Pfam Domains

FAD_binding_6aa 44–151UCSCOxidoreductase FAD-binding domain

NAD_binding_1aa 177–285UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

cytochrome b5 reductase 3

HGNC Previous Symbol

DIA1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 205 variants

14 papers

chr22:42627617 C>T

NM_000398.7

p.A179T

c.535G>A

NAD_binding_1

Exome: 0.0% (AC=85, hom=0)Genome: 0.0% (AC=9, hom=0)7 overlapping SVs

14 papers

chr22:42619922 C>T

NM_000398.7

p.V253M

c.757G>A

NAD_binding_1

Exome: 0.0% (AC=92, hom=1)Genome: 0.0% (AC=9, hom=0)5 overlapping SVs

13 papers

chr22:42630989 C>T

NM_000398.7

p.G76S

c.226G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

12 papers

chr22:42627327 A>G

NM_000398.7

p.C204R

c.610T>C

NAD_binding_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

11 papers

chr22:42630986 G>A

NM_000398.7

p.Q77*

c.229C>T

FAD_binding_6

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

11 papers

chr22:42628265 G>C

NM_000398.7

p.T117S

c.350C>G

FAD_binding_6

Exome: 0.8% (AC=11920, hom=1481)Genome: 8.0% (AC=12190, hom=1670)7 overlapping SVs

11 papers

chr22:42627326 C>T

NM_000398.7

p.C204Y

c.611G>A

NAD_binding_1

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

10 papers

chr22:42628233 A>G

NM_000398.7

p.S128P

c.382T>C

FAD_binding_6

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

9 papers

chr22:42631431 C>T

NM_000398.7

p.R58Q

c.173G>A

FAD_binding_6

Exome: 0.0% (AC=34, hom=1)Genome: 0.0% (AC=4, hom=0)6 overlapping SVs

9 papers

chr22:42628266 T>A

NM_000398.7

p.T117S

c.349A>T

FAD_binding_6

exact variant not in gnomAD7 overlapping SVs

9 papers

chr22:42627674 G>A

NM_000398.7

p.R160*

c.478C>T

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=5, hom=0)7 overlapping SVs

8 papers

chr22:42636719 C>T

NM_000398.7

p.R50Q

c.149G>A

FAD_binding_6

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=7, hom=0)8 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."