PSTPIP1 (NM_003978.5) sequence variants

General web sites
LRG	LRG_172
DNA	NC_000015.10 GRCh38.p13	ENSG00000140368 GRCh38.p13
	NC_000015.9 GRCh37.p13	ENSG00000140368 GRCh37.p13
	NG_007526.1
mRNA	NM_003978.5	ENST00000558012.6
CCDS	CCDS45312.1
Protein	NP_003969.2	ENSP00000452746.1
NCBI Gene	9051
OMIM Gene	606347
OMIM Disease	604416
Nomenclature	HGNC

PubMed of the initial paper: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Wise CA & al
Variants review: Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases Boursier G & al
Other links: MAP VIEW ORPHANET: Orphan disease database