Results for the protein: NP

Results for the Protein: NP_001120727

187937176

199713

NLRP7

NCBI

NACHT, LRR and PYD domains-containing protein 7 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
HYDATIDIFORM MOLE, RECURRENT, 1

7

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Default View: NACHT - pfam05729 LRR_RI - smart00368	RefSeq Protein: NP_001120727 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRR_RI	smart00368	0.00039	874	901

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61747414	Polymorphism	p.ALA481THR	N/A
dbSNP	rs61746625	Polymorphism	p.ARG156GLN	N/A
dbSNP	rs61738423	Polymorphism	p.GLU507VAL	N/A
dbSNP	rs775881	Polymorphism	p.GLY487GLU	N/A
dbSNP	rs61743949	Polymorphism	p.LYS511ARG	N/A
dbSNP	rs10418277	Polymorphism	p.LYS379ASN	N/A
dbSNP	rs7256020	Polymorphism	p.THR1028ALA	N/A
dbSNP	rs775882	Polymorphism	p.VAL319ILE	N/A
OMIM	609661.0008	Disease	p.ARG693GLN	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0004	Disease	p.ARG693PRO	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0006	Disease	p.ARG432TER	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0003	Disease	p.ARG693TRP	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0005	Disease	p.ASN913SER	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0009	Disease	p.LEU398ARG	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0010	Disease	p.PRO651SER	HYDATIDIFORM MOLE, RECURRENT, 1

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