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.S175fs

c.523_524fs

Surrounding Variants

12 papers

NM_001033.5

p.S175F

c.524C>T

1 paper

NM_001033.5

p.V174A

c.521T>C

1 paper

NM_001033.5

p.M172I

c.516G>A

1 paper

NM_001033.5

p.M172I

c.516G>C

1 paper

NM_001033.5

p.M172I

c.516G>T

1 paper

NM_001033.5

p.I178V

c.532A>G

1 paper

NM_001033.5

p.L171V

c.511T>G

1 paper

NM_001033.5

p.H179P

c.536A>C

1 paper

NM_001033.5

p.H179Q

c.537C>A

1 paper

NM_001033.5

p.H179Q

c.537C>G

1 paper

NM_001033.5

p.H169Y

c.505C>T

2 papers

NM_001033.5

p.E181K

c.541G>A