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

20 papers

NM_005591.4

p.R220Splc

c.659+1G>A

Surrounding Variants

2 papers

NM_005591.4

p.R220insFs

c.659dupG

1 paper

NM_005591.4

p.R220Splc

c.659+2T>C

4 papers

NM_005591.4

p.R220R

c.658A>C

2 papers

NM_005591.4

p.N219N

c.657C>T

1 paper

NM_005591.4

p.Q218*

c.652C>T

2 papers

NM_005591.4

p.Q218K

c.652C>A

1 paper

NM_005591.4

p.V215V

c.645G>T

1 paper

NM_005591.4

p.V215L

c.643G>T

1 paper

NM_005591.4

p.F214insFs

c.642dupT

1 paper

NM_005591.4

p.F214_V215insFs

c.642_643insTC

1 paper

NM_005591.4

p.F214Y

c.641T>A

1 paper

NM_005591.4

p.L213_F214insT

c.637_641ins3