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.D549E

c.1647T>A

Surrounding Variants

1 paper

NM_005591.4

p.D549E

c.1647T>G

1 paper

NM_005591.4

p.D549Y

c.1645G>T

4 papers

NM_005591.4

p.I548T

c.1643T>C

1 paper

NM_005591.4

p.A551T

c.1651G>A

1 paper

NM_005591.4

p.A551G

c.1652C>G

3 papers

NM_005591.4

p.L545_S547delFs

c.1633_1640del8

1 paper

NM_005591.4

p.S547I

c.1640G>T

1 paper

NM_005591.4

p.M546T

c.1637T>C

1 paper

NM_005591.4

p.L545fs

c.1633_1634fs

1 paper

NM_005591.4

p.D543D

c.1629T>C

1 paper

NM_005591.4

p.D543N

c.1627G>A

6 papers

NM_005591.4

p.N556S

c.1667A>G