Results for the protein: Q8N726

Results for the Protein: Q8N726

384872321

1029

CDKN2A

NCBI, UniProt

CD2A2_HUMAN RecName: Full=Cyclin-dependent kinase inhibitor 2A, isoform 4; AltName: Full=p14ARF; AltName: Full=p19ARF

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

13

4

13

0

4

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Default View: P19Arf_N - pfam07392	Swiss-Prot Protein: Q8N726 Identical to: NP_478102 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_053033	Polymorphism	p.GLY106ARG	N/A
Swiss-Prot	VAR_053035	Polymorphism	p.GLY116ASP	N/A
Swiss-Prot	VAR_053034	Polymorphism	p.PRO113LEU	N/A
Swiss-Prot	VAR_029287	Polymorphism	p.PRO17SER	N/A
OMIM	600160.0021	Disease	p.ARG68HIS	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0008	Disease	p.ARG1PRO	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0002	Disease	p.ARG180TER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0015	Disease	p.GLY136ARG	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0019	Disease	p.GLY103ASP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0001	Disease	p.GLY207SER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0005	Disease	p.GLY115TRP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2\|\|MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED
OMIM	600160.0017	Disease	p.LEU127LEU	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0007	Disease	p.MET67ILE	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0017	Disease	p.PRO128SER	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0018	Disease	p.SER70ILE	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0013	Disease	p.VAL140ASP	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
OMIM	600160.0016	Disease	p.VAL73GLY	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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