ALK

ALK receptor tyrosine kinase

Summary

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

Known Variants3,645 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055925	2:29,415,675	C/T	—	uncertain significance
rs1668903341	2:29,415,683	T/G	—	uncertain significance
rs1668903533	2:29,415,687	A/G	—	uncertain significance
rs1728828	2:29,415,792	G/A	—	benign
rs1668908633	2:29,415,844	C/T	—	uncertain significance
rs886055926	2:29,415,901	A/G	—	uncertain significance
rs547955328	2:29,415,905	G/A	—	uncertain significance
rs74669215	2:29,415,979	G/A	—	benign
rs182561050	2:29,416,027	T/C	—	likely benign
rs80088378	2:29,416,037	C/G	—	benign
rs186421480	2:29,416,045	C/T	—	benign
rs1327032874	2:29,416,091	C/T	—	likely benign
rs2148136874	2:29,416,092	A/G	—	uncertain significance
rs2148136879	2:29,416,093	G/A	—	likely benign
rs1383494876	2:29,416,094	G/A	—	uncertain significance
rs776637020	2:29,416,095	G/A	—	uncertain significance
rs2148136888	2:29,416,096	C/T	—	likely benign
rs1400620079	2:29,416,097	C/A	—	uncertain significance
rs2465872184	2:29,416,098	C/T	—	uncertain significance
rs1668918068	2:29,416,101	G/A	—	conflicting classifications of pathogenicity
rs1302653514	2:29,416,102	C/A	—	uncertain significance
rs2465872204	2:29,416,103	T/C	—	uncertain significance
rs1345614251	2:29,416,104	G/A	—	uncertain significance
rs2148136916	2:29,416,105	G/A	—	likely benign
rs747978928	2:29,416,108	C/T	—	conflicting classifications of pathogenicity
rs1668918393	2:29,416,109	A/G	—	uncertain significance
rs1280729630	2:29,416,111	G/A	—	likely benign
rs2148136939	2:29,416,112	C/G	—	uncertain significance
rs2148136949	2:29,416,113	T/A	—	uncertain significance
rs1487769564	2:29,416,114	A/C	—	uncertain significance
rs78174819	2:29,416,117	C/G	—	conflicting classifications of pathogenicity
rs2148136965	2:29,416,119	T/G	—	uncertain significance
rs1668918898	2:29,416,121	C/A	—	uncertain significance
rs766072801	2:29,416,123	T/A	—	uncertain significance
rs1668919067	2:29,416,127	A/G	—	conflicting classifications of pathogenicity
rs57917930	2:29,416,128	G/C	—	uncertain significance
rs537603430	2:29,416,129	A/G	—	likely benign
rs761101687	2:29,416,132	G/C	—	likely benign
rs764304191	2:29,416,138	C/T	—	likely benign
rs754214919	2:29,416,140	C/T	—	uncertain significance
rs753750497	2:29,416,141	G/T	—	uncertain significance
rs372440265	2:29,416,142	T/C	—	uncertain significance
rs2148137030	2:29,416,143	A/G	—	uncertain significance
rs758502850	2:29,416,144	A/G	—	conflicting classifications of pathogenicity
rs1668920233	2:29,416,145	T/A	—	uncertain significance
rs780454793	2:29,416,146	G/A	—	conflicting classifications of pathogenicity
rs1573077177	2:29,416,147	A/C	—	likely benign
rs2148137051	2:29,416,148	C/G	—	uncertain significance
rs747161831	2:29,416,149	C/T	—	conflicting classifications of pathogenicity
rs376702277	2:29,416,152	C/T	—	conflicting classifications of pathogenicity
rs1048589952	2:29,416,153	T/C	—	likely benign
rs369781538	2:29,416,155	C/T	—	uncertain significance
rs1573077216	2:29,416,156	A/G	—	likely benign
rs1881423	2:29,416,157	G/T	—	conflicting classifications of pathogenicity
rs373037272	2:29,416,158	G/A	—	conflicting classifications of pathogenicity
rs577660779	2:29,416,160	G/A	—	likely benign
rs2148137103	2:29,416,164	T/C	—	uncertain significance
rs748822593	2:29,416,167	C/T	—	conflicting classifications of pathogenicity
rs76150405	2:29,416,168	G/A	—	likely benign
rs2148137128	2:29,416,169	G/A	—	uncertain significance
rs1668921952	2:29,416,170	C/A	—	uncertain significance
rs767191161	2:29,416,173	C/T	—	conflicting classifications of pathogenicity
rs2148137147	2:29,416,174	T/C	—	likely benign
rs776898697	2:29,416,175	A/G	—	uncertain significance
rs2148137153	2:29,416,177	G/A	—	likely benign
rs1668922506	2:29,416,178	G/A	—	uncertain significance
rs2148137159	2:29,416,179	G/T	—	uncertain significance
rs1668922602	2:29,416,180	C/A	—	uncertain significance
rs1008766442	2:29,416,182	A/G	—	likely benign
rs1364640889	2:29,416,183	G/A	—	likely benign
rs1457558507	2:29,416,184	C/A	—	uncertain significance
rs190639819	2:29,416,185	C/T	—	uncertain significance
rs2148137189	2:29,416,187	T/A	—	uncertain significance
rs2148137192	2:29,416,188	G/A	—	uncertain significance
rs2148137196	2:29,416,189	T/G	—	uncertain significance
rs2148137204	2:29,416,190	T/G	—	uncertain significance
rs1396711236	2:29,416,192	C/G	—	uncertain significance
rs1443014958	2:29,416,193	T/G	—	uncertain significance
rs2148137222	2:29,416,196	T/C	—	uncertain significance
rs2148137224	2:29,416,197	A/G	—	uncertain significance
rs1060500217	2:29,416,198	G/C	—	likely benign
rs1573077410	2:29,416,200	C/A	—	uncertain significance
rs758556216	2:29,416,201	G/C	—	uncertain significance
rs2465872640	2:29,416,202	T/G	—	uncertain significance
rs766508956	2:29,416,204	A/G	—	likely benign
rs751677905	2:29,416,205	T/C	—	conflicting classifications of pathogenicity
rs781448587	2:29,416,206	T/C	—	uncertain significance
rs1237752481	2:29,416,207	G/A	—	conflicting classifications of pathogenicity
rs2148137261	2:29,416,208	A/G	—	uncertain significance
rs1553386863	2:29,416,209	C/T	—	uncertain significance
rs747946035	2:29,416,210	A/T	—	uncertain significance
rs1668924453	2:29,416,211	T/G	—	uncertain significance
rs1213759986	2:29,416,212	T/A	—	uncertain significance
rs2148137275	2:29,416,213	C/T	—	likely benign
rs2465872712	2:29,416,214	C/A	—	uncertain significance
rs370947313	2:29,416,215	C/T	—	uncertain significance
rs553333897	2:29,416,216	A/T	—	uncertain significance
rs749162642	2:29,416,219	A/C	—	likely benign
rs1251627719	2:29,416,220	G/A	—	uncertain significance
rs2148137326	2:29,416,223	A/G	—	uncertain significance

Showing 100 of 3,645 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.