Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ALK |
Variant | R1212H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R1212H lies within the protein kinase domain of the Alk protein (UniProt.org). R1212H has been identified in sequencing studies (PMID: 21499247, PMID: 28912153, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK R1212H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220716C>T |
cDNA | c.3635G>A |
Protein | p.R1212H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|