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.K70M

c.209A>T

Surrounding Variants

2 papers

NM_001033.5

p.H71Y

c.211C>T

1 paper

NM_001033.5

p.Y74H

c.220T>C

1 paper

NM_001033.5

p.T66I

c.197C>T

1 paper

NM_001033.5

p.Y74Y

c.222T>C

1 paper

NM_001033.5

p.A75V

c.224C>T

1 paper

NM_001033.5

p.A64G

c.191C>G

1 paper

NM_001033.5

p.A79T

c.235G>A

1 paper

NM_001033.5

p.A61A

c.183T>G

1 paper

NM_001033.5

p.A79G

c.236C>G

1 paper

NM_001033.5

p.A60S

c.178G>T

3 papers

NM_001033.5

p.T58N

c.173C>A

1 paper

NM_001033.5

p.V83G

c.248T>G