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SRC

Synonyms
ASV, SRC1, THC6, c-SRC, p60-Src
External resources
Summary
This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
703
Likely benign
1,311
Benign
779

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SRC gene.

Phenotype class
Patients in 3billion (%)

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