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Gene SMAD4
Variant D355G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMAD4 D355G lies within the MH2 domain of the Smad4 protein (UniProt.org). D355G has been identified in sequencing studies (PMID: 29420467, PMID: 28481359, PMID: 28351929), but has not been biochemically characterized and therefore, its effect on Smad4 protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_005359.5
gDNA chr18:g.51065531A>G
cDNA c.1064A>G
Protein p.D355G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005359.5 chr18:g.51065531A>G c.1064A>G p.D355G RefSeq GRCh38/hg38
NM_005359 chr18:g.51065531A>G c.1064A>G p.D355G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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
SMAD4 mutant colorectal cancer no benefit Cetuximab Clinical Study - Cohort Actionable In a clinical study, Chinese metastatic colorectal cancer patients harboring a SMAD4 mutation did not respond to treatment with Erbitux (cetuximab) and showed a shorter progression-free survival compared to patients with wild-type SMAD4 (median: 90 vs 250 days, p=0.0081) (PMID: 29703253). 29703253
SMAD4 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in SMAD4 or BMPR1A result in juvenile polyposis syndrome, which is associated with increased risk of developing gastric cancer (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
SMAD4 D355G unknown