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Gene | ALK |
Variant | R311H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R311H lies within MAM domain 1 of the Alk protein (UniProt.org). R311H has been identified in sequencing studies (PMID: 30410351, PMID: 23202128, PMID: 25344691), 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 R311H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29694870C>T |
cDNA | c.932G>A |
Protein | p.R311H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29694870C>T | c.932G>A | p.R311H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29694870C>T | c.932G>A | p.R311H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29694870C>T | c.932G>A | p.R311H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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