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Gene | ALK |
Variant | R401L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK R401L lies within MAM domain 1 of the Alk protein (UniProt.org). R401L results in increased proliferation, clonogenic survival, and invasion in cultured cells (Cancer Res 2021;81(13_Suppl):Abstract nr 2422), and therefore, is predicted to lead to a gain of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK R401L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29383812C>A |
cDNA | c.1202G>T |
Protein | p.R401L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29383812C>A | c.1202G>T | p.R401L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29383812C>A | c.1202G>T | p.R401L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK R401L | gain of function - predicted |