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.N30D

c.88A>G

Surrounding Variants

1 paper

NM_001033.5

p.N30S

c.89A>G

1 paper

NM_001033.5

p.M31I

c.93G>A

1 paper

NM_001033.5

p.D32Y

c.94G>T

1 paper

NM_001033.5

p.F33Y

c.98T>A

1 paper

NM_001033.5

p.F33C

c.98T>G

1 paper

NM_001033.5

p.Q23del1

c.67_68delCAG

1 paper

NM_001033.5

p.R21*

c.61C>T

1 paper

NM_001033.5

p.T19T

c.57A>G

1 paper

NM_001033.5

p.T19A

c.55A>G

1 paper

NM_001033.5

p.F15S

c.44T>C

2 papers

NM_001033.5

p.M14I

c.42G>A

4 papers

NM_001033.5

p.E11E

c.33A>G