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.R576G

c.1726C>G

Surrounding Variants

26 papers

NM_005591.4

p.R576*

c.1726C>T

10 papers

NM_005591.4

p.R576Q

c.1727G>A

1 paper

NM_005591.4

p.G575V

c.1724G>T

3 papers

NM_005591.4

p.G575D

c.1724G>A

1 paper

NM_005591.4

p.R576R

c.1728A>T

1 paper

NM_005591.4

p.R577fs

c.1729_1730fs

1 paper

NM_005591.4

p.G578C

c.1732G>T

1 paper

NM_005591.4

p.G573E

c.1718G>A

1 paper

NM_005591.4

p.G579V

c.1736G>T

1 paper

NM_005591.4

p.R572R

c.1716A>T

1 paper

NM_005591.4

p.R572L

c.1715G>T

11 papers

NM_005591.4

p.R572Q

c.1715G>A