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Gene FGFR2
Variant D283N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 D283N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). D283N has been identified in sequencing studies (PMID: 16140923), 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 exon7 FGFR2 D283N

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Transcript NM_000141.5
gDNA chr10:g.121520071C>T
cDNA c.847G>A
Protein p.D283N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_000141 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_022970 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520071C>T c.847G>A p.D283N RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References