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

31 papers

NM_005591.4

p.R572*

c.1714C>T

Surrounding Variants

1 paper

NM_005591.4

p.R572G

c.1714C>G

1 paper

NM_005591.4

p.R572L

c.1715G>T

11 papers

NM_005591.4

p.R572Q

c.1715G>A

1 paper

NM_005591.4

p.G571G

c.1713C>T

1 paper

NM_005591.4

p.R572R

c.1716A>T

1 paper

NM_005591.4

p.G573E

c.1718G>A

2 papers

NM_005591.4

p.G569_R570delFs

c.1706_1709del4

2 papers

NM_005591.4

p.G569fs

c.1705_1706fs

1 paper

NM_005591.4

p.G569E

c.1706G>A

1 paper

NM_005591.4

p.G575V

c.1724G>T

3 papers

NM_005591.4

p.G575D

c.1724G>A

26 papers

NM_005591.4

p.R576*

c.1726C>T