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Gene | RB1 |
Variant | C706F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RB1 C706F lies within domain B of the Rb1 protein (UniProt.org). C706F confers a loss of function to Rb1 as demonstrated by loss of Rb1 phosphorylation (PMID: 2168563), decreased transcriptional repression in a reporter assay (PMID: 8524800), failure to bind E2f (PMID: 1531329) or SV40 T antigen (PMID: 2288878), and failure to inhibit colony formation in cultured cells (PMID: 9342358). |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 inact mut RB1 C706F |
Transcript | NM_000321.3 |
gDNA | chr13:g.48463741G>T |
cDNA | c.2117G>T |
Protein | p.C706F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321.3 | chr13:g.48463741G>T | c.2117G>T | p.C706F | RefSeq | GRCh38/hg38 |
NM_000321.2 | chr13:g.48463741G>T | c.2117G>T | p.C706F | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.48463741G>T | c.2117G>T | p.C706F | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48463741G>T | c.2117G>T | p.C706F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK rearrange RB1 C706F TP53 loss | lung small cell carcinoma | predicted - resistant | Lorlatinib | Case Reports/Case Series | Actionable | In a clinical case study, RB1 C706F and loss of exons 1-11 in TP53 were identified in the pericardium infiltrating small cell lung cancer that developed while on Lorlatinib (PF-06463922) treatment in a patient with ALK-rearranged non-small cell lung carcinoma (PMID: 28285684). | 28285684 |