Gene Variant Detail

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Gene FGFR1
Variant D320N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 D320N lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). D320N results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D320N

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Transcript NM_023110.3
gDNA chr8:g.38421920C>T
cDNA c.958G>A
Protein p.D320N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716304.1 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38421920C>T c.958G>A p.D320N RefSeq GRCh38/hg38

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