Results for the protein: Q86YC2

Results for the Protein: Q86YC2

74727919

79728

PALB2

NCBI, UniProt

PALB2_HUMAN RecName: Full=Partner and localizer of BRCA2

Known Diseases associated with this Protein:
BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
FANCONI ANEMIA, COMPLEMENTATION GROUP N

3

28

3

2

26

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Default View:	Swiss-Prot Protein: Q86YC2 Identical to: NP_078951 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066378	Polymorphism	p.ALA1025THR	N/A
Swiss-Prot	VAR_066367	Polymorphism	p.ALA491THR	N/A
Swiss-Prot	VAR_066371	Polymorphism	p.ALA712VAL	N/A
Swiss-Prot	VAR_066365	Polymorphism	p.ARG414GLN	N/A
Swiss-Prot	VAR_066362	Polymorphism	p.ASP219GLY	N/A
Swiss-Prot	VAR_066369	Polymorphism	p.GLN559ARG	N/A
Swiss-Prot	VAR_066382	Polymorphism	p.GLN1114HIS	N/A
dbSNP	rs152451	Polymorphism	p.GLN559LEU	N/A
Swiss-Prot	VAR_066370	Polymorphism	p.GLU672GLN	N/A
Swiss-Prot	VAR_066379	Polymorphism	p.GLY1043ALA	N/A
Swiss-Prot	VAR_066377	Polymorphism	p.GLY998GLU	N/A
Swiss-Prot	VAR_066384	Polymorphism	p.HIS1170TYR	N/A
Swiss-Prot	VAR_066361	Polymorphism	p.HIS46TYR	N/A
Swiss-Prot	VAR_032959	Polymorphism	p.ILE309VAL	N/A
Swiss-Prot	VAR_066376	Polymorphism	p.ILE966VAL	N/A
Swiss-Prot	VAR_066383	Polymorphism	p.LEU1143PRO	N/A
Swiss-Prot	VAR_066364	Polymorphism	p.LEU337SER	N/A
Swiss-Prot	VAR_066375	Polymorphism	p.LEU939TRP	N/A
Swiss-Prot	VAR_066368	Polymorphism	p.LYS515ARG	N/A
Swiss-Prot	VAR_066372	Polymorphism	p.PHE728LEU	N/A
dbSNP	rs57605939	Polymorphism	p.PRO210LEU	N/A
Swiss-Prot	VAR_054150	Polymorphism	p.PRO864SER	N/A
Swiss-Prot	VAR_066380	Polymorphism	p.SER1075GLY	N/A
Swiss-Prot	VAR_066363	Polymorphism	p.TYR334CYS	N/A
Swiss-Prot	VAR_066381	Polymorphism	p.VAL1105ALA	N/A
Swiss-Prot	VAR_066373	Polymorphism	p.VAL917ALA	N/A
Swiss-Prot	VAR_066366	Polymorphism	p.VAL425MET	N/A
Swiss-Prot	VAR_066374	Polymorphism	p.VAL932MET	N/A
OMIM	610355.0004	Disease	p.GLN988TER	FANCONI ANEMIA, COMPLEMENTATION GROUP N\|\|BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM	610355.0003	Disease	p.TYR1183TER	FANCONI ANEMIA, COMPLEMENTATION GROUP N\|\|BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM	610355.0001	Disease	p.TYR551TER	FANCONI ANEMIA, COMPLEMENTATION GROUP N

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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