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

6 papers

NM_001033.5

p.M98I

c.294G>A

Surrounding Variants

2 papers

NM_001033.5

p.E99Q

c.295G>C

1 paper

NM_001033.5

p.M98L

c.292A>T

1 paper

NM_001033.5

p.E99V

c.296A>T

1 paper

NM_001033.5

p.V97V

c.291G>A

1 paper

NM_001033.5

p.Y102H

c.304T>C

17 papers

NM_001033.5

p.I105I

c.315A>T

6 papers

NM_001033.5

p.P107P

c.321A>G

1 paper

NM_001033.5

p.H108R

c.323A>G

1 paper

NM_001033.5

p.N109fs

c.325_326fs

1 paper

NM_001033.5

p.N109N

c.327T>C

1 paper

NM_001033.5

p.P114S

c.340C>T

1 paper

NM_001033.5

p.P114L

c.341C>T