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Gene | ATRX |
Variant | L1592F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX L1592F lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1592F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX L1592F |
Transcript | NM_000489.6 |
gDNA | chrX:g.77634629G>A |
cDNA | c.4774C>T |
Protein | p.L1592F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_017029602 | chrX:g.77633626C>A | c.4776G>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_017029606.2 | chrX:g.77633334_77633336delCTGinsTTT | c.4774_4776delCTGinsTTT | p.L1592F | RefSeq | GRCh38/hg38 |
XM_017029606 | chrX:g.77633334_77633336delCAGinsAAA | c.4774_4776delCTGinsTTT | p.L1592F | RefSeq | GRCh38/hg38 |
XM_017029602.1 | chrX:g.77633626C>A | c.4776G>T | p.L1592F | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77634629G>A | c.4774C>T | p.L1592F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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