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.R413*

c.1237C>T

Surrounding Variants

1 paper

NM_001033.5

p.N412N

c.1236T>C

1 paper

NM_001033.5

p.S415G

c.1243A>G

2 papers

NM_001033.5

p.Q418_N419insFs

c.1254_1255insC

2 papers

NM_001033.5

p.N419fs

c.1255_1256fs

1 paper

NM_001033.5

p.P403L

c.1208C>T

1 paper

NM_001033.5

p.P403fs

c.1207_1208fs

2 papers

NM_001033.5

p.I423I

c.1269C>T

1 paper

NM_001033.5

p.C425S

c.1273T>A

1 paper

NM_001033.5

p.E399*

c.1195G>T

2 papers

NM_001033.5

p.N427K

c.1281C>A

2 papers

NM_001033.5

p.N427K

c.1281C>G

1 paper

NM_001033.5

p.C429S

c.1285T>A