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Gene | ALK |
Variant | R395H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R395H lies within MAM domain 1 of the Alk protein (UniProt.org). R395H has been identified in sequencing studies (PMID: 22877736), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK R395H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29383830C>T |
cDNA | c.1184G>A |
Protein | p.R395H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29383830C>T | c.1184G>A | p.R395H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29383830C>T | c.1184G>A | p.R395H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29383830C>T | c.1184G>A | p.R395H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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