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.K360E

c.1078A>G

Surrounding Variants

1 paper

NM_005591.4

p.K360R

c.1079A>G

1 paper

NM_005591.4

p.P358P

c.1074A>G

2 papers

NM_005591.4

p.L362V

c.1084C>G

1 paper

NM_005591.4

p.Q357L

c.1070A>T

1 paper

NM_005591.4

p.Q357K

c.1069C>A

1 paper

NM_005591.4

p.H356delFs

c.1066delG

22 papers

NM_005591.4

p.R364*

c.1090C>T

2 papers

NM_005591.4

p.H356Y

c.1066C>T

1 paper

NM_005591.4

p.R364insFs

c.1090_1091insA

1 paper

NM_005591.4

p.R364L

c.1091G>T

3 papers

NM_005591.4

p.R364Q

c.1091G>A

3 papers

NM_005591.4

p.R366*

c.1096C>T