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Gene | FGFR2 |
Variant | L551I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 L551I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551I has been identified in sequencing studies (PMID: 22810696, PMID: 38983151), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 L551I |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498516G>T |
cDNA | c.1651C>A |
Protein | p.L551I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121498516G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
XM_017015924.3 | chr10:g.121488038G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
XM_017015924 | chr10:g.121488038G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121498574_121498576delCTGinsATC | c.1651_1653delCTGinsATC | p.L551I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121498574_121498576delCAGinsGAT | c.1651_1653delCTGinsATC | p.L551I | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121498574_121498576delCTGinsATC | c.1651_1653delCTGinsATC | p.L551I | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498516G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498519G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
XM_017015924.2 | chr10:g.121488038G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498516G>T | c.1651C>A | p.L551I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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