SRC (P12931) variants and mutations

SRC (also known as P12931) is a human protein-coding gene encoding a proto-oncogene tyrosine-protein kinase protein. It integrates signals from growth-factor receptors, integrins, and other surface proteins to regulate proliferation, adhesion, migration, and survival. Persistent SRC-family signaling promotes invasion and therapy resistance in many cancers and remains an important therapeutic target. This analysis covers 1,057 SRC variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes cancer, chronic myelogenous leukemia, BCR-ABL1 positive, and actinic keratosis. Example SRC variants include M1?, G2D, and G2C.

Variant analysis overview

Gene: SRC
Protein: P12931
UniProt accession: P12931
Organism: Homo sapiens
Variants analyzed: 1057
Variant scope: all variants
Completed: 2026-08-21

Variant and mutation evidence

Variant composition: 754 unspecified-consequence records; 174 missense variants; 87 synonymous variants; 9 stop-gained variants; 23 frameshift variants; 1 in-frame deletions; 2 in-frame insertions; 1 splice-region variants; 6 substitution
Prediction scores: 704 variants have prediction scores (67% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: cancer, chronic myelogenous leukemia, BCR-ABL1 positive, actinic keratosis, acute lymphoblastic leukemia, medullary thyroid gland carcinoma, Noonan syndrome, neoplasm, Costello syndrome, Rare hemorrhagic disorder due to a constitutional platelet anomaly, hypertrophic cardiomyopathy, non-small cell lung carcinoma, listeriosis.

Protein structure and variant hotspots

Protein features: 3 domains; 2 binding sites; 6 post-translational modification sites.
Structural context: 532 variants have structural context.
PTM context: 15 variants overlap post-translational modification sites.
Experimental data: 57 protein positions have experimental scores. Source: SRC SH3 domain domainome 1.0.

Data sources

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

Notable SRC variants

Examples include M1?, G2D, G2C, G2V, G2G, S3C, S3R, S3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

SRC analysis run — SRC (1,057 variants) — completed 2026-08-21