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.Q509K

c.1525C>A

Surrounding Variants

1 paper

NM_005591.4

p.Q509fs

c.1525_1526fs

1 paper

NM_005591.4

p.K510R

c.1529A>G

8 papers

NM_005591.4

p.N511fs

c.1531_1532fs

7 papers

NM_005591.4

p.N511fs

c.1531_1532fs

1 paper

NM_005591.4

p.N511insFs

c.1532dupA

8 papers

NM_005591.4

p.N511delFs

c.1532delT

1 paper

NM_005591.4

p.N511delFs

c.1531_1532delTT

17 papers

NM_005591.4

p.E506*

c.1516G>T

4 papers

NM_005591.4

p.F504_N511del8

c.1510_1532del24

3 papers

NM_005591.4

p.R505I

c.1514G>T

12 papers

NM_005591.4

p.R503H

c.1508G>A

3 papers

NM_005591.4

p.R503C

c.1507C>T