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Gene | FGFR2 |
Variant | L397M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 L397M lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). L397M has been identified in sequencing studies (PMID: 22383975), 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 L397M |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515215G>T |
cDNA | c.1189C>A |
Protein | p.L397M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017015922 | chr10:g.121503825_121503827delAAGinsCAT | c.1189_1191delCTTinsATG | p.L397M | RefSeq | GRCh38/hg38 |
XM_024447888.2 | chr10:g.121503825_121503827delCTTinsATG | c.1189_1191delCTTinsATG | p.L397M | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
XM_024447888.1 | chr10:g.121503825_121503827delCTTinsATG | c.1189_1191delCTTinsATG | p.L397M | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515215G>T | c.1189C>A | p.L397M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 L397M | unknown |