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

1–12 of 968 variants

37 papers

NM_005591.4

p.N117S

c.350A>G

34 papers

NM_005591.4

p.H129N

c.385C>A

34 papers

NM_005591.4

p.R633*

c.1897C>T

31 papers

NM_005591.4

p.R572*

c.1714C>T

26 papers

NM_005591.4

p.R576*

c.1726C>T

23 papers

NM_005591.4

p.W210C

c.630G>C

22 papers

NM_005591.4

p.W210C

c.630G>T

22 papers

NM_005591.4

p.R364*

c.1090C>T

22 papers

NM_005591.4

p.A492D

c.1475C>A

20 papers

NM_005591.4

p.R220Splc

c.659+1G>A

17 papers

NM_005591.4

p.E506*

c.1516G>T

16 papers

NM_005591.4

p.T481K

c.1442C>A