Gene Variant Detail

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Gene ASXL1
Variant G967del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions ASXL1 G967del results in the deletion of one amino acid of the Asxl1 protein at amino acid 967 (UniProt.org). G967del has been identified in sequencing studies (PMID: 30171174, PMID: 21712540), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.32435611_32435613delGGC
cDNA c.2899_2901delGGC
Protein p.G967delG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027704 chr20:g.32435695_32435697delCAC c.2899_2901delCAC p.H967delH RefSeq GRCh38/hg38
XM_017027705 chr20:g.32435695_32435697delCAC c.2899_2901delCAC p.H967delH RefSeq GRCh38/hg38
XM_011528652 chr20:g.32435695_32435697delCAC c.2899_2901delCAC p.H967delH RefSeq GRCh38/hg38
XM_006723732 chr20:g.32435794_32435796delTCG c.2899_2901delTCG p.S967delS RefSeq GRCh38/hg38
XM_006723728 chr20:g.32435641_32435643delCAG c.2899_2901delCAG p.Q967delQ RefSeq GRCh38/hg38
NM_015338 chr20:g.32435611_32435613delGGC c.2899_2901delGGC p.G967delG RefSeq GRCh38/hg38
XM_006723733 chr20:g.32436295_32436297delCAG c.2899_2901delCAG p.Q967delQ RefSeq GRCh38/hg38
XM_017027706 chr20:g.32435765_32435767delCTA c.2900_2902delCTA p.T967delT RefSeq GRCh38/hg38
XM_006723727 chr20:g.32435614_32435616delAGT c.2899_2901delAGT p.S967delS RefSeq GRCh38/hg38
XM_011528648 chr20:g.32435351_32435353delCTA c.2900_2902delCTA p.T967delT RefSeq GRCh38/hg38
XM_006723730 chr20:g.32435695_32435697delCAC c.2899_2901delCAC p.H967delH RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
ASXL1 G967del unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References