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.Q445H

c.1335G>T

Surrounding Variants

1 paper

NM_005591.4

p.Q445H

c.1335G>C

1 paper

NM_005591.4

p.V444fs

c.1330_1331fs

1 paper

NM_005591.4

p.S447*

c.1340C>G

1 paper

NM_005591.4

p.S447*

c.1340C>A

4 papers

NM_005591.4

p.K442_N443Splc

c.1327-2A>G

2 papers

NM_005591.4

p.E451Q

c.1351G>C

1 paper

NM_005591.4

p.R452T

c.1355G>C

1 paper

NM_005591.4

p.G455S

c.1363G>A

1 paper

NM_005591.4

p.V458L

c.1372G>T

1 paper

NM_005591.4

p.V458L

c.1372G>C

1 paper

NM_005591.4

p.V458I

c.1372G>A

1 paper

NM_005591.4

p.V458A

c.1373T>C