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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, Jun 2023).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant 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_001144913.1 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_001320658.2 chr10:g.121520033_121520056delinsTGT c.862_885delinsACA p.I288_E295delinsT RefSeq GRCh38/hg38
NM_001144917.1 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_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_022970.3 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_000141.4 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_E395delinsT led to a partial response with a 50% decrease in tumor burden, which was ongoing after 24 months (PMID: 33926920). 33926920