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Gene | ARID1B |
Variant | P719L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1B P719L does not lie within any known functional domains of the Arid1b protein (UniProt.org). P719L has not been characterized in the scientific literature and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1B mutant ARID1B P719L |
Transcript | NM_017519.2 |
gDNA | chr6:g.157084819C>T |
cDNA | c.2156C>T |
Protein | p.P719L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020732.3 | chr6:g.157084780C>T | c.2156C>T | p.P719L | RefSeq | GRCh38/hg38 |
NM_017519.2 | chr6:g.157084819C>T | c.2156C>T | p.P719L | RefSeq | GRCh38/hg38 |
NM_001346813.1 | chr6:g.157084819C>T | c.2156C>T | p.P719L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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