rs746429
This is a synonymous variant in the SIPA1 gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (1)
▶Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosisAssociationN=9,174Mia M. Gaudet et al.(2009)· International Journal of Cancer
A case-control study of 4,137 breast cancer cases and 4,553 controls from Poland and Britain examined three SIPA1 polymorphisms (rs931127, rs3741378, rs746429) for associations with breast cancer risk and survival. No significant associations were found between SIPA1 genetic variation and breast cancer risk (ORs 0.98–1.03) or overall survival (HRs 0.90–1.04), contradicting previous findings suggesting an association with aggressive tumor features and metastatic potential.
About SIPA1
The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
View all SIPA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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