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.L352R

c.1055T>G

Surrounding Variants

1 paper

NM_005591.4

p.L352insFs

c.1054dupC

2 papers

NM_005591.4

p.R351H

c.1052G>A

4 papers

NM_005591.4

p.R351C

c.1051C>T

1 paper

NM_005591.4

p.N354D

c.1060A>G

1 paper

NM_005591.4

p.R349_E350delFs

c.1047_1048delCC

1 paper

NM_005591.4

p.E350*

c.1048G>T

1 paper

NM_005591.4

p.E350K

c.1048G>A

2 papers

NM_005591.4

p.R349L

c.1046G>T

1 paper

NM_005591.4

p.A347_E348delins

c.1041_1044delinsT

2 papers

NM_005591.4

p.H356Y

c.1066C>T

1 paper

NM_005591.4

p.E348V

c.1043A>T

1 paper

NM_005591.4

p.H356delFs

c.1066delG