Results for the protein: Q9NX02

Results for the Protein: Q9NX02

17380148

55655

NLRP2

NCBI, UniProt

NALP2_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 2; AltName: Full=Nucleotide-binding site protein 1; AltName: Full=PYRIN domain and NACHT domain-containing protein 1; AltName: Full=PYRIN-containing APAF1-like protein 2

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Default View: NACHT - pfam05729	Swiss-Prot Protein: Q9NX02 Identical to: NP_060322, NP_001167552 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	rs1043673	Polymorphism	p.ALA1052GLU	N/A
dbSNP	rs4306647	Polymorphism	p.ARG364LYS	N/A
Swiss-Prot	VAR_053617	Polymorphism	p.GLU302GLN	N/A
Swiss-Prot	VAR_068978	Polymorphism	p.GLU522GLY	N/A
Swiss-Prot	VAR_062140	Polymorphism	p.GLY884ARG	N/A
Swiss-Prot	VAR_068977	Polymorphism	p.THR516ALA	N/A
dbSNP	rs34804158	Polymorphism	p.THR529ALA	N/A
dbSNP	rs17699678	Polymorphism	p.THR221MET	N/A

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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