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SH3RF1

Synonyms
POSH, RNF142, SH3MD2
External resources
Summary
This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module.

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
5,421
Likely benign
1,932
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SH3RF1 gene.

Phenotype class
Patients in 3billion (%)

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