rs142665593

This variant is located in the RASA3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

2 submitters

not specified; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney

About RASA3

This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

View all RASA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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