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

3 papers

NM_001033.5

p.T58N

c.173C>A

Surrounding Variants

1 paper

NM_001033.5

p.D57N

c.169G>A

1 paper

NM_001033.5

p.A60S

c.178G>T

1 paper

NM_001033.5

p.L56L

c.166C>T

1 paper

NM_001033.5

p.E55G

c.164A>G

1 paper

NM_001033.5

p.A61A

c.183T>G

1 paper

NM_001033.5

p.A64G

c.191C>G

1 paper

NM_001033.5

p.T52A

c.154A>G

1 paper

NM_001033.5

p.T66I

c.197C>T

1 paper

NM_001033.5

p.Y48H

c.142T>C

1 paper

NM_001033.5

p.K70M

c.209A>T

2 papers

NM_001033.5

p.H71Y

c.211C>T

1 paper

NM_001033.5

p.I44T

c.131T>C