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.A232fs

c.694_695fs

Surrounding Variants

1 paper

NM_005732.4

p.A232S

c.694G>T

4 papers

NM_005732.4

p.A232D

c.695C>A

1 paper

NM_005732.4

p.Q233K

c.697C>A

1 paper

NM_005732.4

p.Q233_L234insT

c.697_701ins3

1 paper

NM_005732.4

p.Q233*

c.697C>T

1 paper

NM_005732.4

p.E231*

c.691G>T

1 paper

NM_005732.4

p.E231delFs

c.693delA

1 paper

NM_005732.4

p.Q233H

c.699G>C

1 paper

NM_005732.4

p.Q233H

c.699G>T

1 paper

NM_005732.4

p.L234_E239del6

c.700_716del18

1 paper

NM_005732.4

p.S229N

c.686G>A

1 paper

NM_005732.4

p.S229I

c.686G>T