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.S147Y

c.440C>A

Surrounding Variants

1 paper

NM_005732.4

p.S147F

c.440C>T

2 papers

NM_005732.4

p.K148R

c.443A>G

1 paper

NM_005732.4

p.K148N

c.444G>C

1 paper

NM_005732.4

p.V146F

c.436G>T

1 paper

NM_005732.4

p.A149T

c.445G>A

1 paper

NM_005732.4

p.A149S

c.445G>T

1 paper

NM_005732.4

p.A149D

c.446C>A

1 paper

NM_005732.4

p.G145A

c.434G>C

1 paper

NM_005732.4

p.G145V

c.434G>T

1 paper

NM_005732.4

p.V150M

c.448G>A

1 paper

NM_005732.4

p.V150A

c.449T>C

1 paper

NM_005732.4

p.L144I

c.430C>A