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.L151L

c.451C>T

Surrounding Variants

2 papers

NM_005732.4

p.L151I

c.451C>A

1 paper

NM_005732.4

p.L151insFs

c.452_453dupTA

1 paper

NM_005732.4

p.L151V

c.451C>G

1 paper

NM_005732.4

p.V150V

c.450G>A

1 paper

NM_005732.4

p.V150V

c.450G>T

1 paper

NM_005732.4

p.V150A

c.449T>C

1 paper

NM_005732.4

p.N152Y

c.454A>T

1 paper

NM_005732.4

p.V150M

c.448G>A

1 paper

NM_005732.4

p.N152I

c.455A>T

1 paper

NM_005732.4

p.A149D

c.446C>A

1 paper

NM_005732.4

p.A149T

c.445G>A

1 paper

NM_005732.4

p.A149S

c.445G>T