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.K242insFs

c.725_726insTG

Surrounding Variants

1 paper

NM_005732.4

p.K242I

c.725A>T

1 paper

NM_005732.4

p.S243P

c.727T>C

1 paper

NM_005732.4

p.Y244delFs

c.731_732delAT

1 paper

NM_005732.4

p.Y244C

c.731A>G

1 paper

NM_005732.4

p.I240V

c.718A>G

1 paper

NM_005732.4

p.Y244*

c.732T>A

1 paper

NM_005732.4

p.Y244*

c.732T>G

3 papers

NM_005732.4

p.E245K

c.733G>A

1 paper

NM_005732.4

p.E245Q

c.733G>C

1 paper

NM_005732.4

p.E245G

c.734A>G

1 paper

NM_005732.4

p.E239K

c.715G>A

1 paper

NM_005732.4

p.E239Q

c.715G>C