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Gene | ALK |
Variant | F457L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ALK F457L lies within the LDL-receptor class A domain of the Alk protein (UniProt.org). F457L has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK F457L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29328395A>G |
cDNA | c.1369T>C |
Protein | p.F457L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29328395A>G | c.1369T>C | p.F457L | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29328395A>G | c.1369T>C | p.F457L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29328395A>G | c.1369T>C | p.F457L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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