Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.L131M

RRM2

334 papers

RefSeq Summary

This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein ...

Pfam Domains

Ribonuc_red_smaa 79–346UCSCRibonucleotide reductase, small chain

Gene Aliases

HGNC Name

ribonucleotide reductase regulatory subunit M2

HGNC Previous Symbol

C2orf48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001034.4
p.L131M
c.391C>A
Surrounding Variants
1 paper
NM_001034.4
p.L131L
c.393G>A
1 paper
NM_001034.4
p.H129Q
c.387T>G
1 paper
NM_001034.4
p.S128S
c.384C>G
2 papers
NM_001034.4
p.I127M
c.381A>G
1 paper
NM_001034.4
p.I127K
c.380T>A
1 paper
NM_001034.4
p.F126delFs
c.377_378delTT
1 paper
NM_001034.4
p.S137N
c.410G>A
1 paper
NM_001034.4
p.G139G
c.417C>T
1 paper
NM_001034.4
p.V141L
c.421G>T
2 papers
NM_001034.4
p.K120N
c.360A>T
1 paper
NM_001034.4
p.L119M
c.355C>A
1 paper
NM_001034.4
p.E143A
c.428A>C
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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."