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

4 papers

NM_001033.5

p.Y374*

c.1122T>A

Surrounding Variants

4 papers

NM_001033.5

p.Y374*

c.1122T>G

1 paper

NM_001033.5

p.Q377_G378del2

c.1129_1133del6

1 paper

NM_001033.5

p.G378C

c.1132G>T

1 paper

NM_001033.5

p.R379C

c.1135C>T

1 paper

NM_001033.5

p.R381C

c.1141C>T

1 paper

NM_001033.5

p.R381H

c.1142G>A

1 paper

NM_001033.5

p.K382R

c.1145A>G

1 paper

NM_001033.5

p.I394T

c.1181T>C

1 paper

NM_001033.5

p.S396C

c.1187C>G

1 paper

NM_001033.5

p.E399*

c.1195G>T

1 paper

NM_001033.5

p.P403fs

c.1207_1208fs

1 paper

NM_001033.5

p.P403L

c.1208C>T