Gene Variant Detail

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Gene GNAS
Variant R201C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GNAS R201C (corresponding to R844C in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201C results in a loss of the GTPase activity of Gnas leading to constitutive downstream pathway activation, cell proliferation, and tumor formation in mouse models (PMID: 20531296, PMID: 24498230).
Associated Drug Resistance

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Transcript NM_000516
gDNA chr20:g.58909365C>T
cDNA c.601C>T
Protein p.R201C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001077490 chr20:g.58854053_58854055delCGGinsTGT c.601_603delCGGinsTGT p.R201C RefSeq GRCh38/hg38
NM_000516 chr20:g.58909365C>T c.601C>T p.R201C RefSeq GRCh38/hg38
NM_001309883 chr20:g.58854053_58854055delCGGinsTGT c.601_603delCGGinsTGT p.R201C RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
GNAS R201C loss of function