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

16 papers

NM_005591.4

p.T481K

c.1442C>A

Surrounding Variants

4 papers

NM_005591.4

p.T481I

c.1442C>T

4 papers

NM_005591.4

p.T481delFs

c.1441delT

1 paper

NM_005591.4

p.T481T

c.1443A>G

1 paper

NM_005591.4

p.T481A

c.1441A>G

1 paper

NM_005591.4

p.T481fs

c.1441_1442fs

1 paper

NM_005591.4

p.T481fs

c.1441_1442fs

2 papers

NM_005591.4

p.Q482fs

c.1444_1445fs

2 papers

NM_005591.4

p.K480R

c.1439A>G

1 paper

NM_005591.4

p.Q482fs

c.1444_1445fs

3 papers

NM_005591.4

p.Q482delFs

c.1444_1445delTG

10 papers

NM_005591.4

p.R483*

c.1447C>T

2 papers

NM_005591.4

p.R483Q

c.1448G>A