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Gene FGFR2
Variant I288_E295delinsT
Impact List indel
Protein Effect unknown
Gene Variant Descriptions FGFR2 I288_E295delinsT results in deletion of eight amino acids in Ig-like C2-type domain 3 of the Fgfr2 protein from amino acids 288 to 295, combined with the insertion of a threonine (T) at the same location (UniProt.org). I288_E295delinsT has been identified in the scientific literature (PMID: 33926920), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I288_E295delinsT

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Transcript NM_000141.5
gDNA chr10:g.121520033_121520056delinsTGT
cDNA c.862_885delinsACA
Protein p.I288_E295delinsT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917.1 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 I288_E295delinsT intrahepatic cholangiocarcinoma predicted - sensitive Debio 1347 Case Reports/Case Series Actionable In a clinical case study, Debio 1347 treatment in an intrahepatic cholangiocarcinoma patient harboring FGFR2 I288_E295delinsT led to a partial response with a 50% decrease in tumor burden, which was ongoing after 24 months (PMID: 33926920). 33926920