Varaico: Literature-Extracted Genetic Variants

RRM1

432 papers

RefSeq Summary

This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleot...

Pfam Domains

ATP-coneaa 1–89UCSCATP cone domain

Ribonuc_red_lgNaa 141–213UCSCRibonucleotide reductase, all-alpha domain

Ribonuc_red_lgCaa 216–738UCSCRibonucleotide reductase, barrel domain

Gene Aliases

HGNC Name

ribonucleotide reductase catalytic subunit M1

HGNC Previous Name

ribonucleotide reductase M1 polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001033.5

p.G271S

c.811G>A

Surrounding Variants

1 paper

NM_001033.5

p.N270S

c.809A>G

1 paper

NM_001033.5

p.S269Y

c.806C>A

1 paper

NM_001033.5

p.P274Q

c.821C>A

1 paper

NM_001033.5

p.G267A

c.800G>C

1 paper

NM_001033.5

p.M275V

c.823A>G

1 paper

NM_001033.5

p.G267S

c.799G>A

1 paper

NM_001033.5

p.R277K

c.830G>A

1 paper

NM_001033.5

p.R284R

c.850C>A

1 paper

NM_001033.5

p.Y285C

c.854A>G

1 paper

NM_001033.5

p.G289R

c.865G>C

1 paper

NM_001033.5

p.G290R

c.868G>A

1 paper

NM_001033.5

p.G290R

c.868G>C