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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 |