SMAD4 R496H

CI-VAR-00003862Explore in graph →CIViC 3519

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Unmapped disease1unmapped disease
SMAD4 R496H	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID9710 A luciferase reporter gene with SMAD binding elements was transfected into the HT-29 cell line, which lacks a functional SMAD4 gene due to a nonsense mutation. HT-29 cells expressing R496H mutated SMA… (full text at CIViC) PMID 26488212 · Yoshioka et al., 2015 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.