WIPF1

Gene name: WAS/WASL interacting protein family, member 1
OMIM ID: 602357
Chromosome location: 2q31.1

Mutations

Disease/Phenotype	Wiskott-Aldrich syndrome 2
Reference transcript	NM_003387.4
DNA Change	c.1301C>G
A.A. Change	p.Ser434X
Exon/Intron	exon 6
Mutation Type	substitution
Reference	Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S.A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med. 2012 Jan 16;209(1):29-34.

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