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Gene FGFR1
Variant A604T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 A604T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A604T results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 inact mut FGFR1 A604T

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Transcript NM_023110.3
gDNA chr8:g.38415914C>T
cDNA c.1810G>A
Protein p.A604T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.3 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_017013220.2 chr8:g.38416001C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38415902C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_017013219.2 chr8:g.38416001C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38415902C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38415902C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38415914C>T c.1810G>A p.A604T RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38415902C>T c.1810G>A p.A604T RefSeq GRCh38/hg38

Filtering

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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 Protein Effect Treatment Approaches
FGFR1 A604T loss of function - predicted