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Gene | FGFR2 |
Variant | M538L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 M538L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M538L has been identified as a secondary resistance mutation in the context of an FGFR2 fusion (PMID: 34250419), 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 M538L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498555T>G |
cDNA | c.1612A>C |
Protein | p.M538L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717710 | chr10:g.121500835T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498555T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498555T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121500835T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498555T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121500835T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121498549T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121498549T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121498549T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498558T>G | c.1612A>C | p.M538L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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