Varaico: Literature-Extracted Genetic Variants

MRE11

992 papers

RefSeq Summary

This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and ...

Pfam Domains

Metallophosaa 13–249UCSCCalcineurin-like phosphoesterase

Mre11_DNA_bindaa 294–461UCSCMre11 DNA-binding presumed domain

Gene Aliases

HGNC Name

MRE11 double strand break repair nuclease

HGNC Previous Symbol

MRE11A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005591.4

p.G581R

c.1741G>A

Surrounding Variants

1 paper

NM_005591.4

p.G581R

c.1741G>C

1 paper

NM_005591.4

p.G581insFs

c.1743dupG

1 paper

NM_005591.4

p.Q582H

c.1746G>T

1 paper

NM_005591.4

p.G579V

c.1736G>T

1 paper

NM_005591.4

p.Q582H

c.1746G>C

1 paper

NM_005591.4

p.Q582Q

c.1746G>A

1 paper

NM_005591.4

p.G578C

c.1732G>T

2 papers

NM_005591.4

p.S584*

c.1751C>G

2 papers

NM_005591.4

p.S584*

c.1751C>A

1 paper

NM_005591.4

p.R577fs

c.1729_1730fs

1 paper

NM_005591.4

p.A585T

c.1753G>A

1 paper

NM_005591.4

p.R576R

c.1728A>T