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Gene | ALK |
Variant | R1275Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK R1275Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1275Q confers a gain of function to the Alk protein as demonstrated by transformation activity in cell culture and increased downstream signalling in in vitro assays (PMID: 21838707, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK R1275Q ALK mutant ALK R1275X ALK R1275Q |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209798C>T |
cDNA | c.3824G>A |
Protein | p.R1275Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29209798C>T | c.3824G>A | p.R1275Q | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29209798C>T | c.3824G>A | p.R1275Q | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29209798C>T | c.3824G>A | p.R1275Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK R1275Q | gain of function | ALK Inhibitor |
ALK R1275Q TP53 wild-type | ||
ALK R1275Q AXL pos | ||
ALK F1174L ALK R1275Q | ||
ALK R1275Q RET over exp | ||
EML4 - ALK ALK R1275Q | ||
ALK G1202R ALK R1275Q | ||
ALK L1196M ALK R1275Q | ||
ALK G1202R ALK R1275Q BRAF V600E |