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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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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A249fs frameshift loss of function - predicted PBRM1 A249fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 249 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). A249fs has not been characterized, however, due to the effects of other truncation mutations downstream of A249 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
D877Mfs*38 frameshift loss of function - predicted PBRM1 D877Mfs*38 indicates a shift in the reading frame starting at amino acid 877 and terminating 38 residues downstream causing a premature truncation of the 1689 amino acid Pbrm1 protein (UniProt.org). D877Mfs*38 has not been characterized, however, due to the effects of other truncation mutations downstream of D877 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
E291* nonsense loss of function - predicted PBRM1 E291* results in a premature truncation of the Pbrm1 protein at amino acid 291 of 1689 (UniProt.org). E291* has not been characterized, however, due to the effects of other truncation mutations downstream of E291 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
E846* nonsense loss of function - predicted PBRM1 E846* results in a premature truncation of the Pbrm1 protein at amino acid 846 of 1689 (UniProt.org). E846* has not been biochemically characterized, but due to the effects of other Pbrm1 truncation mutations downstream of E846 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
F1354C missense unknown PBRM1 F1354C does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). F1354C has been identified in sequencing studies (PMID: 32236518), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, May 2021).
G2fs frameshift loss of function - predicted PBRM1 G2fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 2 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). G2fs has not been characterized, however, due to the effects of other truncation mutations downstream of G2 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
G340A missense unknown PBRM1 G340A does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). G340A has been identified in sequencing studies (PMID: 21248752), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Aug 2021).
I279Nfs*8 frameshift loss of function - predicted PBRM1 I279Nfs*8 indicates a shift in the reading frame starting at amino acid 279 and terminating 8 residues downstream causing a premature truncation of the 1689 amino acid Pbrm1 protein (UniProt.org). I279Nfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of I279 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
I279Yfs*4 frameshift loss of function - predicted PBRM1 I279Yfs*4 indicates a shift in the reading frame starting at amino acid 279 and terminating 4 residues downstream causing a premature truncation of the 1689 amino acid Pbrm1 protein (UniProt.org). I279Yfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of I279 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
inact mut unknown loss of function PBRM1 inact mut indicates that this variant results in a loss of function of the Pbrm1 protein. However, the specific amino acid change has not been identified.
K135fs frameshift loss of function - predicted PBRM1 K135fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 135 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). K135fs has not been characterized, however, due to the effects of other truncation mutations downstream of K135 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
K154fs frameshift loss of function - predicted PBRM1 K154fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 154 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). K154fs has not been characterized, however, due to the effects of other truncation mutations downstream of K154 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
K619fs frameshift loss of function - predicted PBRM1 K619fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 619 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). K619fs has not been characterized, however, due to the effects of other truncation mutations downstream of K619 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
K621* nonsense loss of function - predicted PBRM1 K621* results in a premature truncation of the Pbrm1 protein at amino acid 621 of 1689 (UniProt.org). K621* has not been characterized, however, due to the effects of other truncation mutations downstream of K621 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
L848F missense unknown PBRM1 L848F lies within the bromo domain 6 of the Pbrm1 protein (UniProt.org). L848F has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jun 2021).
loss unknown loss of function PBRM1 loss indicates loss of the PBRM1 gene, mRNA, and protein.
M704R missense unknown PBRM1 M704R lies within the bromo domain 5 of the Pbrm1 protein (UniProt.org). M704R has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jun 2021).
mutant unknown unknown PBRM1 mutant indicates an unspecified mutation in the PBRM1 gene.
N258Kfs*6 frameshift loss of function - predicted PBRM1 N258Kfs*6 indicates a shift in the reading frame starting at amino acid 258 and terminating 6 residues downstream causing a premature truncation of the 1689 amino acid Pbrm1 protein (UniProt.org). N258Kfs*6 has not been characterized, however, due to the effects of other truncation mutations downstream of N258 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
N463fs frameshift loss of function - predicted PBRM1 N463fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 463 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). N463fs has not been characterized, however, due to the effects of other truncation mutations downstream of N463 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
N609fs frameshift loss of function - predicted PBRM1 N609fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 609 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). N609fs has not been characterized, however, due to the effects of other truncation mutations downstream of N609 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Q117* nonsense loss of function - predicted PBRM1 Q117* results in a premature truncation of the Pbrm1 protein at amino acid 117 of 1689 (UniProt.org). Q117* has not been characterized, however, due to the effects of other truncation mutations downstream of Q117 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Q1298* nonsense loss of function PBRM1 Q1298* results in a premature truncation of the Pbrm1 protein at amino acid 1298 of 1689 (UniProt.org). Q1298* confers a loss of function to the Pbrm1 protein as demonstrated by loss of PBAF complex formation and the inability to inhibit cell proliferation in culture (PMID: 28082722).
Q719* nonsense loss of function - predicted PBRM1 Q719* results in a premature truncation of the Pbrm1 protein at amino acid 719 of 1689 (UniProt.org). Q719* has not been biochemically characterized, but due to the effects of other Pbrm1 truncation mutations downstream of Q719 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Q841* nonsense loss of function - predicted PBRM1 Q841* results in a premature truncation of the Pbrm1 protein at amino acid 841 of 1689 (UniProt.org). Q841* has not been characterized, however, due to the effects of other truncation mutations downstream of Q841 (PMID: 28082722), is predicted to result in a loss of Pbrm1 protein function.
Q870* nonsense loss of function - predicted PBRM1 Q870* results in a premature truncation of the Pbrm1 protein at amino acid 870 of 1689 (UniProt.org). Q870* has not been characterized, however, due to the effects of other truncation mutations downstream of Q870 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
R58* nonsense loss of function - predicted PBRM1 R58* results in a premature truncation of the Pbrm1 protein at amino acid 58 of 1689 (UniProt.org). R58* has not been characterized, however, due to the effects of other truncation mutations downstream of R58 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
R710* nonsense loss of function - predicted PBRM1 R710* results in a premature truncation of the Pbrm1 protein at amino acid 710 of 1689 (UniProt.org). R710* has not been characterized, however, due to the effects of other truncation mutations downstream of R710 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
R761G missense unknown PBRM1 R761G does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). R761G has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jun 2021).
R941fs frameshift loss of function - predicted PBRM1 R941fs (corresponds to R926fs in the canonical isoform) results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 941, likely resulting in premature truncation of the functional protein (UniProt.org). R941fs has not been characterized, however, due to the effects of other truncation mutations downstream of R941 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
S652fs frameshift loss of function - predicted PBRM1 S652fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 652 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). S652fs has not been characterized, however, due to the effects of other truncations downstream of S652 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
S681R missense unknown PBRM1 S681R lies within the Bromo domain 5 of the Pbrm1 protein (UniProt.org). S681R has been identified in the scientific literature (PMID: 29301960), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, May 2021).
W141_L145delinsC indel unknown PBRM1 W141_L145delinsC results in a deletion of five amino acids of the Pbrm1 protein from amino acids 141 to 145, combined with the insertion of a cysteine (C) at the same site (UniProt.org). W141_L145delinsC has been identified in the scientific literature (PMID: 29301960), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Sep 2021).
Y106* nonsense loss of function - predicted PBRM1 Y106* results in a premature truncation of the Pbrm1 protein at amino acid 106 of 1689 (UniProt.org). Y106* has not been characterized, however, due to the effects of other truncation mutations downstream of Y106 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Y331* nonsense loss of function - predicted PBRM1 Y331* results in a premature truncation of the Pbrm1 protein at amino acid 331 of 1689 (UniProt.org). Y331* has not been characterized, however, due to the effects of other truncation mutations downstream of Y331 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Y608fs frameshift loss of function - predicted PBRM1 Y608fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 608 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). Y608fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y608fs (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.