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.R633G

c.1897C>G

Surrounding Variants

34 papers

NM_005591.4

p.R633*

c.1897C>T

2 papers

NM_005591.4

p.R633Q

c.1898G>A

2 papers

NM_005591.4

p.S626_S632insFs

c.1876_1895dup20

2 papers

NM_005591.4

p.S632F

c.1895C>T

1 paper

NM_005591.4

p.P631insFs

c.1891_1892insC

3 papers

NM_005591.4

p.Q630*

c.1888C>T

1 paper

NM_005591.4

p.Q629delFs

c.1885_1886delTG

2 papers

NM_005591.4

p.Q629*

c.1885C>T

2 papers

NM_005591.4

p.Q629K

c.1885C>A

2 papers

NM_005591.4

p.R628K

c.1883G>A

1 paper

NM_005591.4

p.R628*

c.1882A>T

2 papers

NM_005591.4

p.T627A

c.1879A>G