Gene Variant Detail

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Gene ALK
Variant L1196M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK L1196M lies within the protein kinase domain of the Alk protein (UniProt.org). L1196M results in increased Alk kinase activity (PMID: 30258533), modest Alk autophosphorylation, and transformation in cell culture (PMID: 25517749), and confers resistance to Alk inhibitors in the context of ALK rearrangements in culture and in vivo (PMID: 21613408, PMID: 25421750, PMID: 31452835).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK L1196M

ALK mutant ALK L1196X ALK L1196M

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Transcript NM_004304.5
gDNA chr2:g.29220765G>T
cDNA c.3586C>A
Protein p.L1196M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29220765G>T c.3586C>A p.L1196M RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29220765G>T c.3586C>A p.L1196M RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29220765G>T c.3586C>A p.L1196M RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ALK L1196M gain of function ALK Inhibitor
EML4 - ALK ALK L1196M Brigatinib Ceritinib Ensartinib Entrectinib Lorlatinib Repotrectinib
ALK fusion ALK L1196M
ALK L1196M ALK S1206C
EML4 - ALK ALK L1196M ALK L1198F
EML4 - ALK ALK L1196M ALK G1269A
EML4 - ALK ALK C1156Y ALK L1196M
ALK rearrange ALK L1196M
EML4 - ALK ALK I1171S ALK L1196M
EML4 - ALK ALK F1174C ALK L1196M
EML4 - ALK ALK F1174L ALK L1196M
EML4 - ALK ALK F1174V ALK L1196M
EML4 - ALK ALK I1179V ALK L1196M
EML4 - ALK ALK L1196M ALK L1198H
EML4 - ALK ALK L1196M ALK L1256F
EML4 - ALK ALK L1196M ALK G1202R
ALK rearrange ALK L1196M ALK G1202R
ALK rearrange ALK V1180L ALK L1196M ALK G1202R
ALK L1196M ALK pos
ALK rearrange ALK L1196M ALK D1203N
EML4 - ALK ALK L1196M ALK D1203N
EML4 - ALK ALK I1171N ALK L1196M
EML4 - ALK ALK C1156Y ALK L1196M ALK G1202R
ALK L1196M ALK L1198F
EML4 - ALK ALK I1171N ALK L1196M ALK G1202R
ALK fusion ALK L1196M ALK G1202R
EML4 - ALK ALK L1196M ALK G1202R ALK D1203N
EML4 - ALK ALK I1171T ALK F1174L ALK L1196M ALK D1203N ALK E1210K ALK G1269A
ALK I1171T ALK R1192P ALK L1196M ALK F1245V
ALK L1196M ALK R1275Q
ALK F1174L ALK L1196M