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.E515delFs

c.1545delT

Surrounding Variants

1 paper

NM_005591.4

p.D516fs

c.1546_1547fs

1 paper

NM_005591.4

p.D516fs

c.1546_1547fs

1 paper

NM_005591.4

p.D516E

c.1548T>G

1 paper

NM_005591.4

p.D516E

c.1548T>A

1 paper

NM_005591.4

p.D517V

c.1550A>T

1 paper

NM_005591.4

p.V519F

c.1555G>T

1 paper

NM_005591.4

p.V519D

c.1556T>A

4 papers

NM_005591.4

p.F504_N511del8

c.1510_1532del24

7 papers

NM_005591.4

p.N511fs

c.1531_1532fs

1 paper

NM_005591.4

p.N511insFs

c.1532dupA

8 papers

NM_005591.4

p.N511delFs

c.1532delT

1 paper

NM_005591.4

p.N511delFs

c.1531_1532delTT