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Gene Symbol SMARCA4
Synonyms BAF190 | BAF190A | BRG1 | CSS4 | hSNF2b | MRD16 | OTSC12 | RTPS2 | SNF2 | SNF2-beta | SNF2L4 | SNF2LB | SWI2
Gene Description SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, is a member of the SWI/SNF family, which regulates transcription through chromatin remodeling (PMID: 27413115). Mutations in Smarca4 have been linked to rhabdoid tumors as well as breast, prostate, lung, pancreas, and colon cancers (PMID: 18437052, PMID: 24145903, PMID: 19234488).

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Molecular Profile Protein Effect Treatment Approaches
SMARCA4 A1002V unknown
SMARCA4 A1168P unknown
SMARCA4 A1186G unknown
SMARCA4 A1186T loss of function - predicted
SMARCA4 A1186V unknown
SMARCA4 A1468V unknown
SMARCA4 A1536T unknown
SMARCA4 A406T unknown
SMARCA4 A532fs loss of function - predicted
SMARCA4 A636fs loss of function - predicted
SMARCA4 A778P unknown
SMARCA4 A923P unknown
SMARCA4 amp no effect
SMARCA4 D1020Y unknown
SMARCA4 D1127G unknown
SMARCA4 D1175G unknown
SMARCA4 D1183H unknown
SMARCA4 D1235Y unknown
SMARCA4 D1418N unknown
SMARCA4 D779G unknown
SMARCA4 D881G unknown
SMARCA4 del loss of function
SMARCA4 E1211K unknown
SMARCA4 E1212D unknown
SMARCA4 E1300_N1303del unknown
SMARCA4 E1310V unknown
SMARCA4 E1342* loss of function - predicted
SMARCA4 E1364K unknown
SMARCA4 E1393K unknown
SMARCA4 E1401K unknown
SMARCA4 E371K unknown
SMARCA4 E665D unknown
SMARCA4 E667fs loss of function - predicted
SMARCA4 E780K unknown
SMARCA4 E821D unknown
SMARCA4 E821K loss of function
SMARCA4 E821Sfs*10 loss of function - predicted
SMARCA4 E861K unknown
SMARCA4 E882D unknown
SMARCA4 E882K loss of function - predicted
SMARCA4 E920K unknown
SMARCA4 E952fs loss of function - predicted
SMARCA4 F1082Lfs*24 loss of function - predicted
SMARCA4 F1102L unknown
SMARCA4 F1142L unknown
SMARCA4 F1142V unknown
SMARCA4 F1234L unknown
SMARCA4 F1539L unknown
SMARCA4 F412fs loss of function - predicted
SMARCA4 F947Lfs*3 loss of function - predicted
SMARCA4 G102Pfs*26 loss of function - predicted
SMARCA4 G1068V unknown
SMARCA4 G1159fs loss of function - predicted
SMARCA4 G1159V loss of function
SMARCA4 G1159W unknown
SMARCA4 G1160E unknown
SMARCA4 G1162C loss of function
SMARCA4 G1194R unknown
SMARCA4 G1194W unknown
SMARCA4 G1232C unknown
SMARCA4 G1232D loss of function
SMARCA4 G1232S loss of function
SMARCA4 G1232V unknown
SMARCA4 G151S unknown
SMARCA4 G156fs loss of function - predicted
SMARCA4 G271fs loss of function - predicted
SMARCA4 G630D unknown
SMARCA4 G782D unknown
SMARCA4 G782S unknown
SMARCA4 G784E loss of function
SMARCA4 G911S unknown
SMARCA4 H1191R unknown
SMARCA4 H736R unknown
SMARCA4 H884N unknown
SMARCA4 H884R unknown
SMARCA4 I542fs loss of function - predicted
SMARCA4 I542Mfs*71 loss of function - predicted
SMARCA4 I996S unknown
SMARCA4 inact mut loss of function
SMARCA4 K1439Q unknown
SMARCA4 K546del unknown
SMARCA4 K572* loss of function - predicted
SMARCA4 K584Rfs*29 loss of function - predicted
SMARCA4 K586fs loss of function - predicted
SMARCA4 K711Sfs*63 loss of function - predicted
SMARCA4 K785R loss of function
SMARCA4 K991E unknown
SMARCA4 L1042P unknown
SMARCA4 L1163P unknown
SMARCA4 L1163V unknown
SMARCA4 L1202Pfs*14 loss of function - predicted
SMARCA4 L180F unknown
SMARCA4 L456P unknown
SMARCA4 L754F loss of function
SMARCA4 L762fs loss of function - predicted
SMARCA4 L765R unknown
SMARCA4 L792P unknown
SMARCA4 L815P unknown
SMARCA4 L972P unknown
SMARCA4 loss loss of function
SMARCA4 loss TP53 wild-type
SMARCA4 M1105I unknown
SMARCA4 M145I unknown
SMARCA4 M145L unknown
SMARCA4 M272fs loss of function - predicted
SMARCA4 M749Nfs*75 loss of function - predicted
SMARCA4 M781I unknown
SMARCA4 M781L unknown
SMARCA4 M781V unknown
SMARCA4 mutant unknown
SMARCA4 mut TP53 mut
SMARCA4 mut TP53 wild-type
SMARCA4 N1164Y unknown
SMARCA4 N563Gfs*82 loss of function - predicted
SMARCA4 N774K unknown
SMARCA4 N774Kfs*57 loss of function - predicted
SMARCA4 N817K unknown
SMARCA4 N926I unknown
SMARCA4 negative loss of function
SMARCA4 P109fs loss of function - predicted
SMARCA4 P109L unknown
SMARCA4 P1180H unknown
SMARCA4 P1180Lfs*36 loss of function - predicted
SMARCA4 P1180S unknown
SMARCA4 P1344S unknown
SMARCA4 P1504L unknown
SMARCA4 P389L unknown
SMARCA4 P811R unknown
SMARCA4 P913L unknown
SMARCA4 P913Q unknown
SMARCA4 P930L unknown
SMARCA4 P930S unknown
SMARCA4 positive unknown
SMARCA4 Q1166* loss of function - predicted
SMARCA4 Q1187R unknown
SMARCA4 Q1195K unknown
SMARCA4 Q1195L unknown
SMARCA4 Q1226* loss of function - predicted
SMARCA4 Q413* loss of function - predicted
SMARCA4 Q515* loss of function - predicted
SMARCA4 Q555* loss of function - predicted
SMARCA4 Q788* loss of function - predicted
SMARCA4 Q847* loss of function - predicted
SMARCA4 R1077* loss of function - predicted
SMARCA4 R1093* loss of function - predicted
SMARCA4 R1119H unknown
SMARCA4 R1125G unknown
SMARCA4 R1125M unknown
SMARCA4 R1125S unknown
SMARCA4 R1135Gfs*5 loss of function - predicted
SMARCA4 R1135Q unknown
SMARCA4 R1135W loss of function
SMARCA4 R1157Q no effect - predicted
SMARCA4 R1157W gain of function
SMARCA4 R1189* loss of function - predicted
SMARCA4 R1189G unknown
SMARCA4 R1189L unknown
SMARCA4 R1189Q loss of function
SMARCA4 R1192C loss of function
SMARCA4 R1192H unknown
SMARCA4 R1192P unknown
SMARCA4 R1203H unknown
SMARCA4 R1243G unknown
SMARCA4 R1243L unknown
SMARCA4 R1243P unknown
SMARCA4 R1243Q no effect - predicted
SMARCA4 R1243W loss of function
SMARCA4 R1244P unknown
SMARCA4 R1323C unknown
SMARCA4 R1323H unknown
SMARCA4 R1329fs loss of function - predicted
SMARCA4 R1413Qfs*41 loss of function - predicted
SMARCA4 R1515C unknown
SMARCA4 R1515H unknown
SMARCA4 R370C unknown
SMARCA4 R381Q unknown
SMARCA4 R397Q unknown
SMARCA4 R451H unknown
SMARCA4 R521P unknown
SMARCA4 R521W unknown
SMARCA4 R539H unknown
SMARCA4 R874C unknown
SMARCA4 R885C unknown
SMARCA4 R885H unknown
SMARCA4 R885L unknown
SMARCA4 R966W unknown
SMARCA4 R967H unknown
SMARCA4 R973L loss of function
SMARCA4 R973Q unknown
SMARCA4 R973W unknown
SMARCA4 R978* loss of function - predicted
SMARCA4 R978L unknown
SMARCA4 R978Q unknown
SMARCA4 R979Q loss of function
SMARCA4 S1079L unknown
SMARCA4 S1167L unknown
SMARCA4 S1176N unknown
SMARCA4 S1176R unknown
SMARCA4 S1371Y unknown
SMARCA4 S23F unknown
SMARCA4 S391Pfs*20 loss of function - predicted
SMARCA4 S442Rfs*59 loss of function - predicted
SMARCA4 S767F unknown
SMARCA4 S78Yfs*3 loss of function - predicted
SMARCA4 S85L unknown
SMARCA4 T786I unknown
SMARCA4 T786N unknown
SMARCA4 T814K unknown
SMARCA4 T910A unknown
SMARCA4 T910M loss of function
SMARCA4 T910R unknown
SMARCA4 T910Rfs*40 loss of function - predicted
SMARCA4 T912Nfs*38 loss of function - predicted
SMARCA4 V1171Afs*4 loss of function - predicted
SMARCA4 V204fs loss of function - predicted
SMARCA4 V343Cfs*68 loss of function - predicted
SMARCA4 V684Wfs*90 loss of function - predicted
SMARCA4 V742A unknown
SMARCA4 W1178Gfs*38 loss of function - predicted
SMARCA4 W642C unknown
SMARCA4 W764fs loss of function - predicted
SMARCA4 W764R loss of function
SMARCA4 W922* loss of function - predicted
SMARCA4 Y1050fs loss of function - predicted
SMARCA4 Y731Vfs*10 loss of function - predicted
SMARCA4 Y860H unknown