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GRAP2

Synonyms
GADS, GRAP-2, GRB2L, GRBLG, GRID, GRPL, GrbX, Grf40, Mona, P38
External resources
Summary
This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms 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
995
Likely benign
2,115
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GRAP2 gene.

Phenotype class
Patients in 3billion (%)

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