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.E195D

c.585G>T

Surrounding Variants

1 paper

NM_001033.5

p.E195D

c.585G>C

1 paper

NM_001033.5

p.E195G

c.584A>G

1 paper

NM_001033.5

p.E195V

c.584A>T

1 paper

NM_001033.5

p.E195*

c.583G>T

1 paper

NM_001033.5

p.W197G

c.589T>G

1 paper

NM_001033.5

p.W197*

c.590G>A

1 paper

NM_001033.5

p.L193insFs

c.579dupT

1 paper

NM_001033.5

p.L192F

c.574C>T

1 paper

NM_001033.5

p.L193del1

c.577_578delCTT

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.A201delFs

c.601delG