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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 |
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_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 |
XM_017013221.2 | 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 |
NM_001174063.2 | 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_006716303.4 | 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 |
XM_017013221.1 | chr8:g.38421920C>T | c.958G>A | p.D320N | RefSeq | GRCh38/hg38 |
XM_006716304.1 | 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_006716304.2 | chr8:g.38421920C>T | c.958G>A | p.D320N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | AZD4547 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | E7090 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR1 D320N | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 D320N were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |