Results for the protein: Q9H237

Results for the Protein: Q9H237

116242723

64840

PORCN

NCBI, UniProt

PORCN_HUMAN RecName: Full=Protein-cysteine N-palmitoyltransferase porcupine; AltName: Full=Protein MG61

Known Diseases associated with this Protein:
FOCAL DERMAL HYPOPLASIA
FOCAL DERMAL HYPOPLASIA (FODH)

18

1

3

0

16

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Default View: MBOAT - pfam03062	Swiss-Prot Protein: Q9H237 Identical to: NP_982301 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066061	Disease	p.ALA374PRO	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058901	Polymorphism	p.ARG228CYS	N/A
Swiss-Prot	VAR_058904	Disease	p.ARG365GLN	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_035090	Disease	p.ARG365GLY	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058905	Disease	p.CYS385ARG	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_065193	Disease	p.CYS385TYR	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_065192	Disease	p.GLU361VAL	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058900	Disease	p.GLY168ARG	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_035089	Disease	p.GLY60ARG	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058903	Disease	p.HIS341LEU	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_065189	Disease	p.HIS252TYR	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_065191	Disease	p.LEU331ARG	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_065190	Disease	p.SER297LEU	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058899	Disease	p.SER136PHE	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058906	Disease	p.TRP439ARG	Focal dermal hypoplasia (FODH)
Swiss-Prot	VAR_058902	Disease	p.VAL258GLU	Focal dermal hypoplasia (FODH)
OMIM	300651.0005	Disease	p.ARG365GLN	FOCAL DERMAL HYPOPLASIA
OMIM	300651.0003	Disease	p.ARG124TER	FOCAL DERMAL HYPOPLASIA
OMIM	300651.0004	Disease	p.TRP74TER	FOCAL DERMAL HYPOPLASIA

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