Results for the protein: NP

Results for the Protein: NP_006252

262359909

5626

PROP1

NCBI

homeobox protein prophet of Pit-1 [Homo sapiens]

Known Diseases associated with this Protein:
PITUITARY HORMONE DEFICIENCY, COMBINED, 2

8

2

8

2

0

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Default View: COG5576 - COG5576 HOX - smart00389 Homeobox - pfam00046 homeodomain - cd00086	RefSeq Protein: NP_006252 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5576	COG5576	0.00086	15	167
Homeobox	pfam00046	3.9e-30	70	126
HOX	smart00389	1.8e-26	70	125

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800197	Polymorphism	p.ALA142THR	N/A
dbSNP	rs2233783	Polymorphism	p.GLY51ALA	N/A
OMIM	601538.0001	Disease	p.ARG120CYS	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0010	Disease	p.ARG73CYS	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0012	Disease	p.ARG99GLU	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0009	Disease	p.ARG73HIS	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0011	Disease	p.ARG99TER	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0003	Disease	p.PHE117ILE	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0006	Disease	p.PHE88SER	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
OMIM	601538.0013	Disease	p.TRP194TER	PITUITARY HORMONE DEFICIENCY, COMBINED, 2

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