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.S209F

c.626C>T

Surrounding Variants

2 papers

NM_005591.4

p.S209S

c.627T>A

1 paper

NM_005591.4

p.W210R

c.628T>C

1 paper

NM_005591.4

p.W210R

c.628T>A

2 papers

NM_005591.4

p.W210*

c.629G>A

22 papers

NM_005591.4

p.W210C

c.630G>T

23 papers

NM_005591.4

p.W210C

c.630G>C

2 papers

NM_005591.4

p.W210*

c.630G>A

1 paper

NM_005591.4

p.E207D

c.621G>T

1 paper

NM_005591.4

p.E207D

c.621G>C

1 paper

NM_005591.4

p.D206Y

c.616G>T

1 paper

NM_005591.4

p.N212N

c.636C>T

1 paper

NM_005591.4

p.L213_F214insT

c.637_641ins3