Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.D388E

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.D388E
c.1164C>G
Surrounding Variants
1 paper
NM_001034.4
p.D388E
c.1164C>A
1 paper
NM_001034.4
p.D388A
c.1163A>C
1 paper
NM_001034.4
p.*390*
c.1169A>G
1 paper
NM_001034.4
p.T379K
c.1136C>A
1 paper
NM_001034.4
p.T379I
c.1136C>T
1 paper
NM_001034.4
p.S377_P378del2
c.1129_1133del6
1 paper
NM_001034.4
p.R371G
c.1111A>G
1 paper
NM_001034.4
p.Y369F
c.1106A>T
1 paper
NM_001034.4
p.F362F
c.1086T>C
1 paper
NM_001034.4
p.F361F
c.1083C>T
1 paper
NM_001034.4
p.I353T
c.1058T>C
4 papers
NM_001034.4
p.N352S
c.1055A>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."