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 | D1203fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK D1203fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1203 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1203fs is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK D1203fs |
Transcript | NM_004304.5 |
gDNA | chr2:g.(29220744_29220745) |
cDNA | c.(3607_3606) |
Protein | p.D1203fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.(29220744_29220745) | c.(3607_3606) | p.D1203fs | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.(29220744_29220745) | c.(3607_3606) | p.D1203fs | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.(29220744_29220745) | c.(3607_3606) | p.D1203fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK D1203fs | loss of function - predicted |