Gene Detail

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Gene Symbol ASXL1
Synonyms BOPS | MDS
Gene Description ASXL1, additional sex combs like 1, transcriptional regulator, is involved in epigenetic regulation of gene expression and forms complexes with several proteins to regulate transcription (PMID: 23736028). Mutations in ASXL1 are frequent in chronic myelomonocytic leukemia (PMID: 26771811, PMID: 23736028), and have been identified in a number of different tumor types including acute myeloid leukemia and liver cancer (PMID: 23736028).

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Molecular Profile Protein Effect Treatment Approaches
ASXL1 A1312S unknown
ASXL1 A1312V unknown
ASXL1 A158T unknown
ASXL1 A158V unknown
ASXL1 A498S unknown
ASXL1 A54S unknown
ASXL1 A627V unknown
ASXL1 act mut gain of function
ASXL1 amp no effect
ASXL1 D1004N unknown
ASXL1 D475N unknown
ASXL1 D521N unknown
ASXL1 D544N unknown
ASXL1 D756N unknown
ASXL1 E1102D unknown
ASXL1 E1228* gain of function - predicted
ASXL1 E537D unknown
ASXL1 E635Rfs*15 gain of function
ASXL1 E727K unknown
ASXL1 E865K unknown
ASXL1 E997* gain of function - predicted
ASXL1 F1305* gain of function - predicted
ASXL1 G1299D unknown
ASXL1 G42* loss of function - predicted
ASXL1 G643fs gain of function - predicted
ASXL1 G645Vfs*58 gain of function - predicted
ASXL1 G646fs gain of function - predicted
ASXL1 G646W unknown
ASXL1 G646Wfs*12 gain of function
ASXL1 G660D unknown
ASXL1 G679* gain of function - predicted
ASXL1 G685R unknown
ASXL1 G812C unknown
ASXL1 G967del unknown
ASXL1 I579S unknown
ASXL1 inact mut loss of function
ASXL1 K162E unknown
ASXL1 K163T unknown
ASXL1 K383* loss of function - predicted
ASXL1 L1325F unknown
ASXL1 L145F unknown
ASXL1 L1467I unknown
ASXL1 L56I unknown
ASXL1 M1161I unknown
ASXL1 M29V unknown
ASXL1 mutant unknown
ASXL1 mut TET2 mut
ASXL1 mut CALR wild-type
ASXL1 mut CALR mut
ASXL1 N986S unknown
ASXL1 P1117L unknown
ASXL1 P1360S unknown
ASXL1 P1392L unknown
ASXL1 P479* gain of function
ASXL1 P494S unknown
ASXL1 P567L unknown
ASXL1 Q1491* unknown
ASXL1 Q512* gain of function - predicted
ASXL1 Q588R unknown
ASXL1 Q733* gain of function - predicted
ASXL1 R1090K unknown
ASXL1 R1090T unknown
ASXL1 R1247C unknown
ASXL1 R1273H unknown
ASXL1 R1415* unknown
ASXL1 R143* loss of function - predicted
ASXL1 R244H unknown
ASXL1 R265H unknown
ASXL1 R302C unknown
ASXL1 R404* gain of function
ASXL1 R419K unknown
ASXL1 R545H unknown
ASXL1 R545P unknown
ASXL1 R549H unknown
ASXL1 R693* gain of function - predicted
ASXL1 R965* gain of function - predicted
ASXL1 S1028L unknown
ASXL1 S1209N unknown
ASXL1 S120N unknown
ASXL1 S203F unknown
ASXL1 S441F unknown
ASXL1 S577* gain of function - predicted
ASXL1 S723F unknown
ASXL1 S791F unknown
ASXL1 V1246D unknown
ASXL1 W796C unknown
ASXL1 wild-type no effect
ASXL1 wild-type TET2 mut
ASXL1 wild-type CALR mut
ASXL1 wild-type CALR wild-type
ASXL1 Y591* gain of function