AAK1 (AP2 associated kinase 1) |
Variant encodes clathrin-binding domain |
(Henderson and Conner, 2007) |
CD55 (CD55 molecule, decay accelerating factor for complement (Cromer blood group)) |
Alternative splicing generates either a protein with a GPI anchor or with a transmembrane domain |
(Mizuno et al., 2007) |
Cd80 (CD80 molecule) Mus musculus |
Exon encodes for IgV (immunoglobulin-like domains) and acts as a negative regulator |
(Bugeon et al., 2006) |
dgk-1 (DiacylGlycerol Kinase) Caenorhabditis elegans |
Alternative splicing generates two new forms with the kinase domain and part of the PH (pleckstrin homology) domain |
(Jose and Koelle, 2005) |
DYRK4 (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4) |
Exon encodes nuclear localization domain |
(Papadopoulos et al., 2011) |
ERBB2IP (erbb2 interacting protein) |
Variant lacks the SID (SMAD-interacting domain) and loses its ability to inhibit TGFβ (transforming growth factor beta) |
(Dai et al., 2007) |
FGFR1 (fibroblast growth factor receptor 1) |
Exon encodes one immunoglobulin domain that increases cellular proliferation in high density cultures |
(Zhang et al., 2006) |
matn1 (matrilin 1, cartilage matrix protein) Danio rerio |
Exon encodes a threonine/serine domain |
(Ko et al., 2005) |
MUC1 (mucin 1, cell surface associated) |
Exons encode mucin domain |
(Levitin et al., 2005) |
NOD2 (nucleotide-binding oligomerization domain containing 2) |
Alternative splicing produces a new variant that lacks a LRR (Leucine-rich repeat) domain |
(Leung et al., 2007) |
RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1) |
Alternative stop codon deletes C2 and RID (Rho GTPase inactivation domain) |
(Lu and Ferreira, 2005) |
Syne2 (spectrin repeat containing, nuclear envelope 2) Mus musculus |
Exon codes for an actin-binding domain. Its skipping causes thickening of epidermis |
(Luke et al., 2008) |
TNFRSF13B (tumor necrosis factor receptor superfamily, member 13B) |
Exon encodes a CRD (cysteine-rich domain) |
(Hymowitz et al., 2005) |