Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.K96K

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.K96K
c.288G>A
Surrounding Variants
1 paper
NM_001034.4
p.K96E
c.286A>G
1 paper
NM_001034.4
p.E98K
c.292G>A
1 paper
NM_001034.4
p.K95Q
c.283A>C
1 paper
NM_001034.4
p.E98A
c.293A>C
1 paper
NM_001034.4
p.K95E
c.283A>G
1 paper
NM_001034.4
p.K95*
c.283A>T
4 papers
NM_001034.4
p.E98E
c.294G>A
1 paper
NM_001034.4
p.A99D
c.296C>A
1 paper
NM_001034.4
p.S100A
c.298T>G
1 paper
NM_001034.4
p.Q92Q
c.276G>A
1 paper
NM_001034.4
p.T103A
c.307A>G
1 paper
NM_001034.4
p.I90N
c.269T>A
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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."