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Gene | ATRX |
Variant | N1753D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX N1753D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1753D has been identified in sequencing studies (PMID: 30075702), 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 N1753D |
Transcript | NM_000489.6 |
gDNA | chrX:g.77620410T>C |
cDNA | c.5257A>G |
Protein | p.N1753D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005262153.5 | chrX:g.77620407T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_017029610.1 | chrX:g.77600553T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.77620407T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.77618910T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77618910T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_017029609.1 | chrX:g.77600556T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_005262154 | chrX:g.77618910T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_017029610 | chrX:g.77600553T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_017029609 | chrX:g.77600556T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77620407T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77620410T>C | c.5257A>G | p.N1753D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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