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Gene | ARID1B |
Variant | Q127_Q131del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1B Q127_Q131del results in the deletion of five amino acids in the Arid1b protein from amino acids 127 to 131 (UniProt.org). Q127_Q131del has been identified in the scientific literature (PMID: 36374558), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1B mutant ARID1B Q127_Q131del |
Transcript | NM_017519.2 |
gDNA | chr6:g.156778310_156778324del15 |
cDNA | c.381_395del15 |
Protein | p.Q127_Q131del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001346813.1 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
NM_017519.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
NM_020732.3 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_011535984.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_017011106.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_017011107.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_017011103.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_017011105.2 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
XM_017011104.1 | chr6:g.156778310_156778324del15 | c.381_395del15 | p.Q127_Q131del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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