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Gene Symbol PBRM1
Synonyms BAF180 | PB1 | RCC | SMARCH1
Gene Description PBRM1, polybromo 1, is a member of the PBAF subunit (PMID: 32303701) of the SWI/SNF complex, which functions in chromatin remodeling to modulate gene expression (PMID: 23867514). PBRM1 is frequently mutated in clear cell renal cell carcinoma (PMID: 19084573, PMID: 31861590).

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Molecular Profile Protein Effect Treatment Approaches
PBRM1 A249fs loss of function - predicted EZH2 inhibitor
PBRM1 D877Mfs*38 loss of function - predicted
PBRM1 del loss of function
PBRM1 E291* loss of function - predicted EZH2 inhibitor
PBRM1 E846* loss of function - predicted EZH2 inhibitor
PBRM1 F1354C unknown
PBRM1 G2fs loss of function - predicted EZH2 inhibitor
PBRM1 G340A unknown
PBRM1 I279Nfs*8 loss of function - predicted
PBRM1 I279Yfs*4 loss of function - predicted EZH2 inhibitor
PBRM1 inact mut loss of function EZH2 inhibitor
PBRM1 inact mut VHL loss
PBRM1 K135fs loss of function - predicted EZH2 inhibitor
PBRM1 K154fs loss of function - predicted EZH2 inhibitor
PBRM1 K619fs loss of function - predicted EZH2 inhibitor
PBRM1 K621* loss of function - predicted EZH2 inhibitor
PBRM1 L848F unknown
PBRM1 loss loss of function EZH2 inhibitor
PBRM1 M704R unknown
PBRM1 mutant unknown
PBRM1 N258Kfs*6 loss of function - predicted EZH2 inhibitor
PBRM1 N463fs loss of function - predicted EZH2 inhibitor
PBRM1 N609fs loss of function - predicted EZH2 inhibitor
PBRM1 Q117* loss of function - predicted EZH2 inhibitor
PBRM1 Q1298* loss of function EZH2 inhibitor
PBRM1 Q1480Tfs*29 unknown
PBRM1 Q388* loss of function - predicted EZH2 inhibitor
PBRM1 Q719* loss of function - predicted EZH2 inhibitor
PBRM1 Q793* loss of function - predicted
PBRM1 Q841* loss of function - predicted
PBRM1 Q870* loss of function - predicted EZH2 inhibitor
PBRM1 R58* loss of function - predicted EZH2 inhibitor
PBRM1 R710* loss of function - predicted EZH2 inhibitor
PBRM1 R761G unknown
PBRM1 R941fs loss of function - predicted EZH2 inhibitor
PBRM1 S328fs loss of function - predicted
PBRM1 S383* loss of function - predicted
PBRM1 S652fs loss of function - predicted EZH2 inhibitor
PBRM1 S681R unknown
PBRM1 W141_L145delinsC unknown
PBRM1 Y106* loss of function - predicted EZH2 inhibitor
PBRM1 Y331* loss of function - predicted EZH2 inhibitor
PBRM1 Y608fs loss of function - predicted EZH2 inhibitor