Results for the protein: NP

Results for the Protein: NP_001182061

304376272

1029

CDKN2A

NCBI

cyclin-dependent kinase inhibitor 2A isoform p16gamma [Homo sapiens]

Known Diseases associated with this Protein:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED

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Default View: ANK - cd00204	RefSeq Protein: NP_001182061 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 ↕
dbSNP	rs3731249	Polymorphism	p.ALA148THR	N/A
OMIM	600160.0021	Disease	p.ARG54HIS	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0008	Disease	p.ARG24PRO	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0002	Disease	p.ARG232TER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0015	Disease	p.GLY122ARG	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0019	Disease	p.GLY89ASP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0001	Disease	p.GLY259SER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0005	Disease	p.GLY101TRP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2\|\|MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED
OMIM	600160.0017	Disease	p.LEU113LEU	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0007	Disease	p.MET53ILE	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0017	Disease	p.PRO114SER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0018	Disease	p.SER56ILE	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0013	Disease	p.VAL126ASP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0016	Disease	p.VAL59GLY	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

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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