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.H489Y

c.1465C>T

Surrounding Variants

1 paper

NM_005591.4

p.H489R

c.1466A>G

2 papers

NM_005591.4

p.R488H

c.1463G>A

11 papers

NM_005591.4

p.R488C

c.1462C>T

1 paper

NM_005591.4

p.R488G

c.1462C>G

1 paper

NM_005591.4

p.E487G

c.1460A>G

1 paper

NM_005591.4

p.K486E

c.1456A>G

22 papers

NM_005591.4

p.A492D

c.1475C>A

1 paper

NM_005591.4

p.L485F

c.1453C>T

1 paper

NM_005591.4

p.L493delFs

c.1477delG

11 papers

NM_005591.4

p.E494K

c.1480G>A

2 papers

NM_005591.4

p.R483Q

c.1448G>A

10 papers

NM_005591.4

p.R483*

c.1447C>T