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.N207S

c.620A>G

Surrounding Variants

1 paper

NM_001033.5

p.L205P

c.614T>C

1 paper

NM_001033.5

p.N211S

c.632A>G

1 paper

NM_001033.5

p.N211N

c.633C>T

1 paper

NM_001033.5

p.R212G

c.634C>G

1 paper

NM_001033.5

p.R212C

c.634C>T

2 papers

NM_001033.5

p.R212H

c.635G>A

1 paper

NM_001033.5

p.R212P

c.635G>C

1 paper

NM_001033.5

p.P213L

c.638C>T

1 paper

NM_001033.5

p.A201delFs

c.601delG

1 paper

NM_001033.5

p.H200L

c.599A>T

1 paper

NM_001033.5

p.H200_A201delFs

c.600_601delTG

1 paper

NM_001033.5

p.W197*

c.590G>A