Varaico: Literature-Extracted Genetic Variants

Gene:RRM2B
Variant:p.L212F

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001172477.1
p.L212F
c.636G>C
Surrounding Variants
1 paper
NM_001172477.1
p.L212F
c.636G>T
1 paper
NM_015713.5
p.S139R
c.417T>G
1 paper
NM_015713.5
p.S139R
c.417T>A
5 papers
NM_015713.5
p.Y138_S139delFs
c.414_415delTG
1 paper
NM_015713.5
p.I142T
c.425T>C
1 paper
NM_015713.5
p.S139R
c.415A>C
2 papers
NM_015713.5
p.Y138*
c.414C>G
1 paper
NM_015713.5
p.Y138fs
c.412_413fs
2 papers
NM_015713.5
p.Y138*
c.414C>A
2 papers
NM_015713.5
p.Y138F
c.413A>T
1 paper
NM_001172477.1
p.Y210_S211insC
c.628_632ins3
7 papers
NM_015713.5
p.T144I
c.431C>T
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