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

17 papers

NM_001033.5

p.I105I

c.315A>T

Surrounding Variants

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.Y102H

c.304T>C

1 paper

NM_001033.5

p.N109N

c.327T>C

1 paper

NM_001033.5

p.E99V

c.296A>T

2 papers

NM_001033.5

p.E99Q

c.295G>C

6 papers

NM_001033.5

p.M98I

c.294G>A

1 paper

NM_001033.5

p.M98L

c.292A>T

1 paper

NM_001033.5

p.V97V

c.291G>A

1 paper

NM_001033.5

p.P114S

c.340C>T

1 paper

NM_001033.5

p.P114L

c.341C>T