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.V474M

c.1420G>A

Surrounding Variants

2 papers

NM_005591.4

p.L473F

c.1419A>T

2 papers

NM_005591.4

p.L473F

c.1419A>C

7 papers

NM_005591.4

p.L473S

c.1418T>C

1 paper

NM_005591.4

p.E472*

c.1414G>T

1 paper

NM_005591.4

p.E471Q

c.1411G>C

2 papers

NM_005591.4

p.Q477E

c.1429C>G

1 paper

NM_005591.4

p.I470V

c.1408A>G

2 papers

NM_005591.4

p.A469G

c.1406C>G

1 paper

NM_005591.4

p.E479Q

c.1435G>C

1 paper

NM_005591.4

p.E479G

c.1436A>G

2 papers

NM_005591.4

p.D468G

c.1403A>G

1 paper

NM_005591.4

p.D468Y

c.1402G>T