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Gene ARID1B
Variant Q123*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1B Q123* results in a premature truncation of the Arid1b protein at amino acid 123 of 2236 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q123* is predicted to lead to a loss of Arid1b protein function.
Associated Drug Resistance
Category Variants Paths

ARID1B mutant ARID1B inact mut ARID1B Q123*

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Transcript NM_017519.2
gDNA chr6:g.156778296C>T
cDNA c.367C>T
Protein p.Q123*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017011103.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011105.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_011535984 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_017519 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_020732.3 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011107.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011105 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011107 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011104.1 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_005267069 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_017519.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011106.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011103 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_001346813.1 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011106 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011104 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_020732 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_011535984.2 chr6:g.156778296C>T c.367C>T p.Q123* 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 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 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
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 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