Home > Gene Browser > SH2D1B

SH2D1B

Synonyms
EAT2
External resources
Summary
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).

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
664
Likely benign
304
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SH2D1B gene.

Phenotype class
Patients in 3billion (%)

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