Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.N352D

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.N352D
c.1054A>G
Surrounding Variants
4 papers
NM_001034.4
p.N352S
c.1055A>G
1 paper
NM_001034.4
p.M350I
c.1050G>A
1 paper
NM_001034.4
p.I353T
c.1058T>C
1 paper
NM_001034.4
p.F349L
c.1047T>A
1 paper
NM_001034.4
p.F349L
c.1047T>G
1 paper
NM_001034.4
p.F349L
c.1045T>C
1 paper
NM_001034.4
p.P346L
c.1037C>T
6 papers
NM_001034.4
p.N345K
c.1035C>A
6 papers
NM_001034.4
p.N345K
c.1035C>G
1 paper
NM_001034.4
p.F361F
c.1083C>T
1 paper
NM_001034.4
p.F341L
c.1023C>A
1 paper
NM_001034.4
p.F341L
c.1023C>G
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