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

2 papers

NM_005591.4

p.I125T

c.374T>C

Surrounding Variants

1 paper

NM_005591.4

p.H126Q

c.378T>A

1 paper

NM_005591.4

p.G127S

c.379G>A

1 paper

NM_005591.4

p.H126delFs

c.378delA

2 papers

NM_005591.4

p.H129Y

c.385C>T

1 paper

NM_005591.4

p.H129D

c.385C>G

34 papers

NM_005591.4

p.H129N

c.385C>A

2 papers

NM_005591.4

p.H129L

c.386A>T

1 paper

NM_005591.4

p.H129Q

c.387T>A

2 papers

NM_005591.4

p.D130V

c.389A>T

1 paper

NM_005591.4

p.D130G

c.389A>G

10 papers

NM_005591.4

p.I120V

c.358A>G

12 papers

NM_005591.4

p.D131N

c.391G>A