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.G589_S590del1

c.1767_1769delGAC

Surrounding Variants

5 papers

NM_005591.4

p.Q591*

c.1771C>T

2 papers

NM_005591.4

p.S590F

c.1769C>T

2 papers

NM_005591.4

p.Q591E

c.1771C>G

1 paper

NM_005591.4

p.S590C

c.1769C>G

2 papers

NM_005591.4

p.S590A

c.1768T>G

1 paper

NM_005591.4

p.S590T

c.1768T>A

1 paper

NM_005591.4

p.Q591P

c.1772A>C

1 paper

NM_005591.4

p.G589fs

c.1765_1766fs

1 paper

NM_005591.4

p.R592*

c.1774A>T

4 papers

NM_005591.4

p.Q591_R592delFs

c.1773_1774delTT

1 paper

NM_005591.4

p.R592S

c.1776A>T

1 paper

NM_005591.4

p.R592S

c.1776A>C