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.S106R

c.316A>C

Surrounding Variants

1 paper

NM_005732.4

p.K105K

c.315A>G

1 paper

NM_005732.4

p.K105R

c.314A>G

1 paper

NM_005732.4

p.S106R

c.318C>A

1 paper

NM_005732.4

p.S106R

c.318C>G

2 papers

NM_005732.4

p.K105E

c.313A>G

1 paper

NM_005732.4

p.K107I

c.320A>T

1 paper

NM_005732.4

p.K108*

c.322A>T

29 papers

NM_005732.4

p.T109_E110delFs

c.326_329del4

1 paper

NM_005732.4

p.Q104*

c.310C>T

8 papers

NM_005732.4

p.K108R

c.323A>G

1 paper

NM_005732.4

p.T103I

c.308C>T

7 papers

NM_005732.4

p.T109fs

c.325_326fs