Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.E147A

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.E147A
c.440A>C
Surrounding Variants
1 paper
NM_001034.4
p.V146A
c.437T>C
1 paper
NM_001034.4
p.F149del1
c.445_446delTTT
1 paper
NM_001034.4
p.V146M
c.436G>A
2 papers
NM_001034.4
p.F149L
c.445T>C
2 papers
NM_001034.4
p.F149L
c.447T>A
2 papers
NM_001034.4
p.F149L
c.447T>G
1 paper
NM_001034.4
p.I155V
c.463A>G
1 paper
NM_001034.4
p.A158T
c.472G>A
1 paper
NM_001034.4
p.F161del1
c.481_482delTTC
1 paper
NM_001034.4
p.Y162F
c.485A>T
1 paper
NM_001034.4
p.Q165K
c.493C>A
1 paper
NM_001034.4
p.Q165E
c.493C>G
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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."