Varaico: Literature-Extracted Genetic Variants

RAD50

1,231 papers

RefSeq Summary

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protei...

Pfam Domains

AAA_23aa 6–235UCSCAAA domain

Rad50_zn_hookaa 659–712UCSCRad50 zinc hook motif

SbcC_Walker_Baa 1173–1251UCSCSbcC/RAD50-like, Walker B motif

Gene Aliases

HGNC Name

RAD50 double strand break repair protein

HGNC Alias Symbols

hRad50; RAD50-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005732.4

p.K112_T113del2

c.334_338del6

Surrounding Variants

1 paper

NM_005732.4

p.F111C

c.332T>G

1 paper

NM_005732.4

p.F111fs

c.331_332fs

1 paper

NM_005732.4

p.K112E

c.334A>G

1 paper

NM_005732.4

p.E110G

c.329A>G

1 paper

NM_005732.4

p.K112R

c.335A>G

1 paper

NM_005732.4

p.E110delFs

c.328delG

3 papers

NM_005732.4

p.T109I

c.326C>T

1 paper

NM_005732.4

p.T113I

c.338C>T

7 papers

NM_005732.4

p.T109fs

c.325_326fs

1 paper

NM_005732.4

p.T109A

c.325A>G

11 papers

NM_005732.4

p.T109fs

c.325_326fs

1 paper

NM_005732.4

p.L114V

c.340C>G