Gene Variant Detail

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Gene ATRX
Variant R1302Lfs*43
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX R1302Lfs*43 indicates a shift in the reading frame starting at amino acid 1302 and terminating 43 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302Lfs*43 is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX R1302fs ATRX R1302Lfs*43

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Transcript NM_000489.6
gDNA chrX:g.77664683_77664686delCTTT
cDNA c.3904_3907delAGAA
Protein p.R1302Lfs*43
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029602 chrX:g.(77656619_77663478) c.(3904_4035) p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_017029604.2 chrX:g.(77654179_77663397) c.(3904_4035) p.R1302Lfs*43 RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
NM_000489 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_017029604 chrX:g.(77654179_77663397) c.(3904_4035) p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_006724668 chrX:g.77664683_77664686delCTTT c.3904_3907delAGAA p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_017029602.1 chrX:g.(77656619_77663478) c.(3904_4035) p.R1302Lfs*43 RefSeq GRCh38/hg38
XM_017029604.3 chrX:g.(77654179_77663397) c.(3904_4035) p.R1302Lfs*43 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References