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GNAS R201C
GeneGNAS
Variantmissense
Amino Acid ChangeR201C
Transcript ID (GRCh37/hg19)ENST00000371100
Codon201
Exon1
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
GNAS
Variants
GNAS R201C
Primary Sites
Ampulla (Pancreaticobiliary Duct)
Tumor Types
Adenocarcinoma
Interpretation

The GNAS gene encodes the stimulatory G-alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G-protein) membrane complex. Activating mutations in GNAS that have been linked to the endocrine hyperplasia of McCune-Albright syndrome have also been found in growth-hormone-secreting pituitary tumors. Point mutations in the GNAS gene, many of which involve the residues R201 and Q227, can lead to constitutive signaling activity, resulting in cellular proliferation and oncogenesis. Tumor types that have been found to harbor GNAS mutations include colon, parathyroid, and ovarian cancers, hepatocellular carcinoma, and pancreatic intraductal papillary mucinous neoplasms. The GNAS R201C mutation is known to be oncogenic.

Last updated: 2019-01-22 18:41:42 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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