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.R502G

c.1504C>G

Surrounding Variants

4 papers

NM_005591.4

p.R502C

c.1504C>T

1 paper

NM_005591.4

p.R502H

c.1505G>A

1 paper

NM_005591.4

p.V501A

c.1502T>C

3 papers

NM_005591.4

p.R503C

c.1507C>T

12 papers

NM_005591.4

p.R503H

c.1508G>A

2 papers

NM_005591.4

p.E500_V501Splc

c.1501-2A>G

3 papers

NM_005591.4

p.R505I

c.1514G>T

2 papers

NM_005591.4

p.E500_V501Splc

c.1501-8T>G

17 papers

NM_005591.4

p.E506*

c.1516G>T

1 paper

NM_005591.4

p.Q509K

c.1525C>A

1 paper

NM_005591.4

p.Q509fs

c.1525_1526fs

1 paper

NM_005591.4

p.K510R

c.1529A>G