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Gene ATRX
Variant A1690D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX A1690D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). A1690D has been identified in sequencing studies (PMID: 22416102, PMID: 25487495), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX A1690D

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Transcript NM_000489.6
gDNA chrX:g.77633272G>T
cDNA c.5069C>A
Protein p.A1690D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029611.1 chrX:g.77618819G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_017029602.1 chrX:g.77620478G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
NM_138270.5 chrX:g.77620483_77620484delCAinsAC c.5069_5070delCAinsAC p.A1690D RefSeq GRCh38/hg38
NM_138270.3 chrX:g.77620483_77620484delCAinsAC c.5069_5070delCAinsAC p.A1690D RefSeq GRCh38/hg38
NM_000489 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_006724668 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_017029602 chrX:g.77620478G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
NM_138270 chrX:g.77620483_77620484delTGinsGT c.5069_5070delCAinsAC p.A1690D RefSeq GRCh38/hg38
XM_017029611 chrX:g.77618819G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77633272G>T c.5069C>A p.A1690D RefSeq GRCh38/hg38

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Sorting

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