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

4 papers

NM_005591.4

p.E535*

c.1603G>T

Surrounding Variants

1 paper

NM_005591.4

p.E534K

c.1600G>A

1 paper

NM_005591.4

p.Q532_S533delFs

c.1594_1598del5

2 papers

NM_005591.4

p.S531A

c.1591T>G

1 paper

NM_005591.4

p.A539P

c.1615G>C

1 paper

NM_005591.4

p.A542T

c.1624G>A

1 paper

NM_005591.4

p.D543N

c.1627G>A

1 paper

NM_005591.4

p.D543D

c.1629T>C

2 papers

NM_005591.4

p.A526V

c.1577C>T

1 paper

NM_005591.4

p.A526S

c.1576G>T

1 paper

NM_005591.4

p.A526T

c.1576G>A

2 papers

NM_005591.4

p.A526fs

c.1576_1577fs

3 papers

NM_005591.4

p.R525K

c.1574G>A