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.F106fs

c.316_317fs

Surrounding Variants

1 paper

NM_005591.4

p.F106S

c.317T>C

2 papers

NM_005591.4

p.K105N

c.315G>T

2 papers

NM_005591.4

p.K105N

c.315G>C

1 paper

NM_005591.4

p.K105M

c.314A>T

5 papers

NM_005591.4

p.K105E

c.313A>G

1 paper

NM_005591.4

p.W108C

c.324G>T

1 paper

NM_005591.4

p.W108C

c.324G>C

1 paper

NM_005591.4

p.V109G

c.326T>G

1 paper

NM_005591.4

p.V109_N110delFs

c.326_329del4

1 paper

NM_005591.4

p.Y111C

c.332A>G

2 papers

NM_005591.4

p.D113N

c.337G>A

8 papers

NM_005591.4

p.D113G

c.338A>G