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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 |