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.V458V

c.1374A>C

Surrounding Variants

1 paper

NM_005591.4

p.V458A

c.1373T>C

1 paper

NM_005591.4

p.Q459*

c.1375C>T

1 paper

NM_005591.4

p.Q459E

c.1375C>G

1 paper

NM_005591.4

p.V458L

c.1372G>T

1 paper

NM_005591.4

p.V458L

c.1372G>C

1 paper

NM_005591.4

p.V458I

c.1372G>A

5 papers

NM_005591.4

p.E460*

c.1378G>T

1 paper

NM_005591.4

p.E460D

c.1380A>C

1 paper

NM_005591.4

p.V462M

c.1384G>A

1 paper

NM_005591.4

p.V462E

c.1385T>A

1 paper

NM_005591.4

p.G455S

c.1363G>A

1 paper

NM_005591.4

p.K464E

c.1390A>G