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.C157delins

c.471delinsCACACAC

Surrounding Variants

3 papers

NM_005732.4

p.H158Y

c.472C>T

1 paper

NM_005732.4

p.C157F

c.470G>T

1 paper

NM_005732.4

p.H158R

c.473A>G

2 papers

NM_005732.4

p.H158_Q159delFs

c.474_475delTC

1 paper

NM_005732.4

p.Q159E

c.475C>G

2 papers

NM_005732.4

p.Q159H

c.477A>C

2 papers

NM_005732.4

p.Q159H

c.477A>T

1 paper

NM_005732.4

p.E160_D161del0

c.478_483del6

1 paper

NM_005732.4

p.E160K

c.478G>A

1 paper

NM_005732.4

p.E160Q

c.478G>C

1 paper

NM_005732.4

p.I155T

c.464T>C

1 paper

NM_005732.4

p.I155V

c.463A>G