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.L344R

c.1031T>G

Surrounding Variants

1 paper

NM_005591.4

p.L344L

c.1032T>G

1 paper

NM_005591.4

p.M343I

c.1029G>T

1 paper

NM_005591.4

p.M343I

c.1029G>C

1 paper

NM_005591.4

p.M343I

c.1029G>A

1 paper

NM_005591.4

p.A347D

c.1040C>A

1 paper

NM_005591.4

p.I340fs

c.1018_1019fs

1 paper

NM_005591.4

p.E348V

c.1043A>T

1 paper

NM_005591.4

p.I340F

c.1018A>T

1 paper

NM_005591.4

p.A347_E348delins

c.1041_1044delinsT

2 papers

NM_005591.4

p.R349L

c.1046G>T

1 paper

NM_005591.4

p.K339_I340Splc

c.1018-2A>T

1 paper

NM_005591.4

p.E350*

c.1048G>T