ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: Non-Small Cell Lung Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519698
rs1057519698
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.030 GeneticVariation BEFREE Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA. 27565911 2016
dbSNP: rs1057519698
rs1057519698
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.030 GeneticVariation BEFREE I1171 missense mutation (particularly I1171N) is a common resistance mutation in ALK-positive NSCLC patients who have progressive disease while on alectinib and is sensitive to ceritinib. 25736571 2015
dbSNP: rs1057519698
rs1057519698
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.030 GeneticVariation BEFREE Identification of a novel HIP1-ALK fusion variant in Non-Small-Cell Lung Cancer (NSCLC) and discovery of ALK I1171 (I1171N/S) mutations in two ALK-rearranged NSCLC patients with resistance to Alectinib. 25393796 2014