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

2 papers

NM_005732.4

p.L192F

c.574C>T

Surrounding Variants

1 paper

NM_005732.4

p.L192fs

c.574_575fs

9 papers

NM_005732.4

p.T191I

c.572C>T

7 papers

NM_005732.4

p.R193W

c.577C>T

5 papers

NM_005732.4

p.R193Q

c.578G>A

1 paper

NM_005732.4

p.R193P

c.578G>C

1 paper

NM_005732.4

p.Q194*

c.580C>T

1 paper

NM_005732.4

p.E190Q

c.568G>C

1 paper

NM_005732.4

p.Q194L

c.581A>T

1 paper

NM_005732.4

p.V195I

c.583G>A

1 paper

NM_005732.4

p.V195A

c.584T>C

4 papers

NM_005732.4

p.R196C

c.586C>T

1 paper

NM_005732.4

p.A188T

c.562G>A