Results for the protein: Q92878

Results for the Protein: Q92878

60392986

10111

RAD50

NCBI, UniProt

RAD50_HUMAN RecName: Full=DNA repair protein RAD50; Short=hRAD50

Known Diseases associated with this Protein:
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

2

13

2

1

12

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Default View:	Swiss-Prot Protein: Q92878 Identical to: NP_005723 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_020962	Polymorphism	p.ARG1038GLY	N/A
Swiss-Prot	VAR_025527	Polymorphism	p.ARG224HIS	N/A
Swiss-Prot	VAR_029169	Polymorphism	p.ARG193TRP	N/A
Swiss-Prot	VAR_061779	Polymorphism	p.GLY469ALA	N/A
Swiss-Prot	VAR_025526	Polymorphism	p.ILE94LEU	N/A
Swiss-Prot	VAR_020958	Polymorphism	p.LYS616GLU	N/A
Swiss-Prot	VAR_020961	Polymorphism	p.LYS973MET	N/A
dbSNP	rs2230017	Polymorphism	p.THR191ILE	N/A
Swiss-Prot	VAR_020960	Polymorphism	p.TYR964HIS	N/A
Swiss-Prot	VAR_020959	Polymorphism	p.VAL697ALA	N/A
Swiss-Prot	VAR_029170	Polymorphism	p.VAL842ALA	N/A
Swiss-Prot	VAR_029168	Polymorphism	p.VAL127ILE	N/A
Swiss-Prot	VAR_034436	Polymorphism	p.VAL315LEU	N/A
OMIM	604040.0001	Disease	p.ARG1093TER	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
OMIM	604040.0002	Disease	p.TER1313TYR	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

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