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.L172V

c.514T>G

Surrounding Variants

2 papers

NM_005732.4

p.L172F

c.516G>C

2 papers

NM_005732.4

p.L172F

c.516G>T

1 paper

NM_005732.4

p.K173_Q174ins16

c.517_521ins48

1 paper

NM_005732.4

p.A171P

c.511G>C

5 papers

NM_005732.4

p.A171S

c.511G>T

1 paper

NM_005732.4

p.K170*

c.508A>T

1 paper

NM_005732.4

p.K170delFs

c.509_510delAG

1 paper

NM_005732.4

p.G169R

c.505G>A

1 paper

NM_005732.4

p.E168A

c.503A>C

2 papers

NM_005732.4

p.F176L

c.526T>C

1 paper

NM_005732.4

p.F176V

c.526T>G

1 paper

NM_005732.4

p.F176_D177insFs

c.528_529insCT