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Gene | ATRX |
Variant | P1750R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX P1750R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). P1750R 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 P1750R |
Transcript | NM_000489.6 |
gDNA | chrX:g.77620418G>C |
cDNA | c.5249C>G |
Protein | p.P1750R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_017029607 | chrX:g.77616696G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_017029607.2 | chrX:g.77616696G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATRX P1750R | unknown |