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.Y308*

c.924T>A

Surrounding Variants

2 papers

NM_005732.4

p.Y308Y

c.924T>C

1 paper

NM_005732.4

p.Y308*

c.924T>G

1 paper

NM_005732.4

p.Y308H

c.922T>C

2 papers

NM_005732.4

p.L307L

c.921A>G

1 paper

NM_005732.4

p.L307V

c.919T>G

1 paper

NM_005732.4

p.D306A

c.917A>C

1 paper

NM_005732.4

p.D306H

c.916G>C

1 paper

NM_005732.4

p.N305N

c.915T>C

4 papers

NM_005732.4

p.Q312*

c.934C>T

1 paper

NM_005732.4

p.Q303R

c.908A>G

1 paper

NM_005732.4

p.T314R

c.941C>G

1 paper

NM_005732.4

p.T314T

c.942A>T