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.K196N

c.588A>T

Surrounding Variants

1 paper

NM_005591.4

p.K196N

c.588A>C

2 papers

NM_005591.4

p.K197delFs

c.591delT

1 paper

NM_005591.4

p.T199fs

c.595_596fs

1 paper

NM_005591.4

p.T199T

c.597A>C

1 paper

NM_005591.4

p.M200L

c.598A>T

1 paper

NM_005591.4

p.M200V

c.598A>G

1 paper

NM_005591.4

p.M200L

c.598A>C

8 papers

NM_005591.4

p.R202G

c.604A>G

3 papers

NM_005591.4

p.R191*

c.571C>T

1 paper

NM_005591.4

p.P203S

c.607C>T

1 paper

NM_005591.4

p.Y190H

c.568T>C

1 paper

NM_005591.4

p.P203L

c.608C>T