MERTK (Tyrosine-protein kinase Mer) variants and mutations

MERTK (also known as Tyrosine-protein kinase Mer) is a human protein-coding gene encoding a tyrosine-protein kinase Mer protein. It promotes engulfment of apoptotic cells and dampens inflammatory responses after activation by GAS6 or protein S, with important roles in retinal pigment epithelium and immune cells. Biallelic loss-of-function variants cause retinitis pigmentosa, while tumor cells can exploit MERTK signaling for survival and immune evasion. This analysis covers 1,417 MERTK variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes retinitis pigmentosa, Retinal dystrophy, and autosomal recessive retinitis pigmentosa. Example MERTK variants include G2V, G2W, and G2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable MERTK variants

Examples include G2V, G2W, G2R, G2G, P3S, P3T, P3L, P3Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.