Gene Detail

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Gene Symbol ALK
Synonyms CD246 | NBLST3
Gene Description ALK, anaplastic lymphoma kinase, is a receptor in the insulin receptor superfamily and is a key regulator of neuronal development (PMID: 21502284) and also promotes cell proliferation through activation of MAPK and PI3K signaling pathways (PMID: 27573755). Alk activating mutations, rearrangements, and fusions have been identified in various cancers (PMID: 22649787), including EML4-ALK in non-small cell lung cancer (PMID: 30108712, PMID: 30194140), and a number of mutations confer resistance in the context of Alk fusions (PMID: 25749034, PMID: 21948233).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
F1174X missense unknown ALK F1174X indicates any Alk missense mutation that results in replacement of the phenylalanine (F) at amino acid 1174 by a different amino acid.
G1202X missense unknown ALK G1202X indicates any Alk missense mutation that results in replacement of the glycine (G) at amino acid 1202 by a different amino acid.
I1171X missense unknown ALK I1171X indicates any Alk missense mutation that results in replacement of the isoleucine (I) at amino acid 1171 by a different amino acid.
L1196X missense unknown ALK L1196X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1196 by a different amino acid.
L1198X missense unknown ALK L1198X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1198 by a different amino acid.
V1180X missense unknown ALK V1180X indicates any Alk missense mutation that results in replacement of the valine (V) at amino acid 1180 by a different amino acid.
act mut unknown gain of function ALK act mut indicates that this variant results in a gain of function in the Alk protein. However, the specific amino acid change has not been identified.
fusion fusion unknown ALK fusion indicates a fusion of the ALK gene, but the fusion partner is unknown.
inact mut unknown loss of function ALK inact mut indicates that this variant results in a loss of function of the Alk protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ALK mutant indicates an unspecified mutation in the ALK gene.
rearrange unknown unknown ALK rearrangement indicates an unspecified rearrangement of the ALK gene.