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Gene ARID1B
Variant R1075*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions ARID1B R1075* (corresponds to R1062* in the canonical isoform) results in a premature truncation of the Arid1b protein at amino acid 1075 of 2236 (UniProt.org). R1075* results in decreased protein stability, reduced association with chromatin, and impaired cranial neural crest cell formation likely due to aberrant NANOG/SOX2 activity in patient-derived cells (PMID: 34753942).
Associated Drug Resistance
Category Variants Paths

ARID1B mutant ARID1B inact mut ARID1B R1075*

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Transcript NM_020732.3
gDNA chr6:g.157181056C>T
cDNA c.3223C>T
Protein p.R1075*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011535988.4 chr6:g.157207103A>T c.3223A>T p.R1075* RefSeq GRCh38/hg38
XM_017011105.3 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38
NM_020732.3 chr6:g.157181056C>T c.3223C>T p.R1075* RefSeq GRCh38/hg38
XM_011535984.3 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38
XM_047419155.1 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID1B inact mut melanoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1B, did not correlate with improved survival in 2 separate cohorts of patients with melanoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.70 (p=0.192, n=86) and 1.02 (p=0.939, n=192), respectively (PMID: 32321774). 32321774
ARID1B inact mut transitional cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1B, did not correlate with improved survival in 2 separate cohorts of patients with transitional cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.44 (p=0.34, n=56) and 0.82 (p=0.559, n=93), respectively (PMID: 32321774). 32321774
ARID1B inact mut gastroesophageal adenocarcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1B, did not correlate with improved survival in 2 separate cohorts of patients with gastroesophageal adenocarcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.70 (p=0.403, n=66) and 0.46 (p=0.071, n=59), respectively (PMID: 32321774). 32321774
ARID1B inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1B, did not correlate with improved survival in 2 separate cohorts of patients with head and neck squamous cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.74 (p=0.631, n=31) and 0.76 (p=0.622, n=68), respectively (PMID: 32321774). 32321774
ARID1B inact mut colorectal adenocarcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including ARID1B, correlated with improved survival in one cohort of patients with colorectal adenocarcinoma treated with systemic immune checkpoint inhibitors but not the other, with adjusted HRs for overall survival of 0.30 (p=0.03, n=35) and 0.56 (p=0.244, n=63), respectively (PMID: 32321774). 32321774