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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RRM2B

RRM2B

203 papers

RefSeq Summary

This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphate...

Pfam Domains

Ribonuc_red_smaa 41–308UCSCRibonucleotide reductase, small chain

Gene Aliases

HGNC Name

ribonucleotide reductase regulatory TP53 inducible subunit M2B

HGNC Alias Symbol

p53R2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 227 variants

11 papers

chr8:102224978 C>T

NM_015713.5

p.R121H

c.362G>A

Ribonuc_red_sm

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

10 papers

chr8:102232231 C>T

NM_015713.5

p.R41Q

c.122G>A

Ribonuc_red_sm

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=3, hom=0)31 overlapping SVs

10 papers

chr8:102218942 T>C

NM_015713.5

p.R186G

c.556A>G

Ribonuc_red_sm

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

9 papers

chr8:102218917 T>C

NM_015713.5

p.E194G

c.581A>G

Ribonuc_red_sm

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

9 papers

chr8:102218845 G>A

NM_015713.5

p.T218I

c.653C>T

Ribonuc_red_sm

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

9 papers

chr8:102212833 C>G

NM_015713.5

p.M282I

c.846G>C

Ribonuc_red_sm

Exome: 0.0% (AC=75, hom=0)Genome: 0.0% (AC=8, hom=0)30 overlapping SVs

9 papers

chr8:102208210 G>A

NM_015713.5

p.R327*

c.979C>T

exact variant not in gnomAD31 overlapping SVs

8 papers

chr8:102232231 C>G

NM_015713.5

p.R41P

c.122G>C

Ribonuc_red_sm

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)31 overlapping SVs

8 papers

chr8:102225011 C>T

NM_015713.5

p.R110H

c.329G>A

Ribonuc_red_sm

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

8 papers

chr8:102218918 C>T

NM_015713.5

p.E194K

c.580G>A

Ribonuc_red_sm

exact variant not in gnomAD30 overlapping SVs

8 papers

chr8:102218915 C>T

NM_015713.5

p.G195R

c.583G>A

Ribonuc_red_sm

Exome: 0.0% (AC=8, hom=0)Genome: n/a30 overlapping SVs

8 papers

chr8:102218827 A>C

NM_015713.5

p.I224S

c.671T>G

Ribonuc_red_sm

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=4, hom=0)30 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."