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.N115T

c.344A>C

Surrounding Variants

1 paper

NM_005591.4

p.N115S

c.344A>G

1 paper

NM_005591.4

p.N115D

c.343A>G

1 paper

NM_005591.4

p.G114D

c.341G>A

1 paper

NM_005591.4

p.N117D

c.349A>G

37 papers

NM_005591.4

p.N117S

c.350A>G

8 papers

NM_005591.4

p.D113G

c.338A>G

2 papers

NM_005591.4

p.D113N

c.337G>A

1 paper

NM_005591.4

p.I118V

c.352A>G

1 paper

NM_005591.4

p.S119L

c.356C>T

1 paper

NM_005591.4

p.Y111C

c.332A>G

1 paper

NM_005591.4

p.V109_N110delFs

c.326_329del4

10 papers

NM_005591.4

p.I120V

c.358A>G