Gene Variant Detail

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Gene ATRX
Variant R1302Kfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX R1302Kfs*7 indicates a shift in the reading frame starting at amino acid 1302 and terminating 7 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302Kfs*7 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 R1302Kfs*7

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Transcript NM_000489.6
gDNA chrX:g.77664690dupT
cDNA c.3904dupA
Protein p.R1302Kfs*7
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029602 chrX:g.77663479_77663480insGTGGGTTC c.3903_3904insAACCCACG p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77664690dupT c.3904dupA p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_017029604.2 chrX:g.77663397_77663398insTT c.3904_3905insAA p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77664690dupT c.3904dupA p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_017029604.3 chrX:g.77663397_77663398insTT c.3904_3905insAA p.R1302Kfs*7 RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77664690dupT c.3904dupA p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77664690dupT c.3904dupA p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_006724668 chrX:g.77664688_77664689insC c.3899_3900insG p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_017029602.1 chrX:g.77663478_77663479insTTTGGGTT c.3903_3904insAACCCAAA p.R1302Kfs*7 RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77664690dupT c.3904dupA p.R1302Kfs*7 RefSeq GRCh38/hg38
NM_000489 chrX:g.77664688_77664689insC c.3899_3900insG p.R1302Kfs*7 RefSeq GRCh38/hg38
XM_017029604 chrX:g.77663396_77663397insCT c.3904_3905insAG p.R1302Kfs*7 RefSeq GRCh38/hg38

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