Varaico: Literature-Extracted Genetic Variants

RAD52

331 papers

RefSeq Summary

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown...

Pfam Domains

Rad52_Rad22aa 35–183UCSCRad52/22 family double-strand break repair protein

Gene Aliases

HGNC Name

RAD52 DNA repair protein

HGNC Previous Names

RAD52 homolog, DNA repair protein; RAD52 (S. cerevisiae) homolog; RAD52 homolog (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_134424.4

p.Y415*

c.1245T>A

Surrounding Variants

12 papers

NM_134424.4

p.Y415*

c.1245T>G

1 paper

NM_134424.4

p.D416N

c.1246G>A

2 papers

NM_134424.4

p.Y415C

c.1244A>G

2 papers

NM_134424.4

p.K414R

c.1241A>G

2 papers

NM_134424.4

p.K412R

c.1235A>G

1 paper

NM_134424.4

p.K411R

c.1232A>G

1 paper

NM_134424.4

p.D409V

c.1226A>T

1 paper

NM_134424.4

p.K406M

c.1217A>T

1 paper

NM_134424.4

p.H404D

c.1210C>G

1 paper

NM_134424.4

p.S403delFs

c.1209delA

1 paper

NM_134424.4

p.E402K

c.1204G>A

2 papers

NM_134424.4

p.G399*

c.1195G>T