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Gene | FGFR1 |
Variant | R576W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 R576W lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R576W has been identified in sequencing studies (PMID: 16186508, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R576W |
Transcript | NM_023110.3 |
gDNA | chr8:g.38415998G>A |
cDNA | c.1726C>T |
Protein | p.R576W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304.2 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38415998G>A | c.1726C>T | p.R576W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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