Gene Detail

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Gene Symbol CSF3R
Synonyms CD114 | GCSFR | SCN7
Gene Description CSF3R, colony stimulating factor 3 receptor, encodes a cytokine receptor regulating proliferation and differentiation of myeloid progenitor cells (PMID: 27789332). CSF3R mutations commonly occur in chronic neutrophilic leukemia and acute myeloid leukemia (PMID: 23896413, PMID: 30348809).

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Molecular Profile Protein Effect Treatment Approaches
CSF3R A119T unknown
CSF3R A124V unknown
CSF3R A208V unknown
CSF3R A383V unknown
CSF3R A470T unknown
CSF3R A520S unknown
CSF3R A593T unknown
CSF3R A602S unknown
CSF3R A778V unknown
CSF3R A832V unknown
CSF3R act mut gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R C52G unknown
CSF3R D236G unknown
CSF3R D320N unknown
CSF3R D364Y unknown
CSF3R D40N unknown
CSF3R D510H unknown
CSF3R D702G unknown
CSF3R D771fs gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R E149Q unknown
CSF3R E254K unknown
CSF3R E331* loss of function - predicted
CSF3R E363D unknown
CSF3R E363V unknown
CSF3R E405K unknown
CSF3R E501K unknown
CSF3R E524A gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R E524D no effect - predicted
CSF3R E524G gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R E524K gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R E524N gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R E553K unknown
CSF3R E700* unknown
CSF3R E700Q unknown
CSF3R E808* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R E808K unknown
CSF3R E831* no effect
CSF3R F156S unknown
CSF3R F792* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R G147_P148insR unknown
CSF3R G21R unknown
CSF3R G415R unknown
CSF3R G487W unknown
CSF3R G513E unknown
CSF3R G539C unknown
CSF3R G555R unknown
CSF3R G671C unknown
CSF3R G72R unknown
CSF3R G757D unknown
CSF3R G81R unknown
CSF3R H436Mfs*12 loss of function - predicted
CSF3R H588Y unknown
CSF3R I48N unknown
CSF3R I494V unknown
CSF3R I598M unknown
CSF3R inact mut loss of function
CSF3R K180N unknown
CSF3R K704A gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R K705A no effect
CSF3R K785E unknown
CSF3R L23M unknown
CSF3R L285F unknown
CSF3R L55Q unknown
CSF3R L595V unknown
CSF3R L62Q unknown
CSF3R L670* loss of function - predicted
CSF3R L685* loss of function - predicted
CSF3R L685P unknown
CSF3R L768R unknown
CSF3R L776A gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R L777A gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R L790* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R L816A no effect
CSF3R M133I unknown
CSF3R M199I unknown
CSF3R M231V unknown
CSF3R M601I unknown
CSF3R mutant unknown
CSF3R N610H gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R N610Q gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R N610S gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R N656S unknown
CSF3R N713K unknown
CSF3R N789S unknown
CSF3R N818* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R P20L unknown
CSF3R P221L unknown
CSF3R P34L unknown
CSF3R P34S unknown
CSF3R P360L unknown
CSF3R P467L unknown
CSF3R P527S unknown
CSF3R P675S unknown
CSF3R P782L unknown
CSF3R Q110* loss of function - predicted
CSF3R Q168H unknown
CSF3R Q197H unknown
CSF3R Q741* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R T618I CSF3R Q741*
CSF3R Q75* loss of function - predicted
CSF3R Q793* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R Q823* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R Q823H no effect
CSF3R R118P unknown
CSF3R R190H unknown
CSF3R R233W unknown
CSF3R R269C unknown
CSF3R R274C unknown
CSF3R R308C loss of function
CSF3R R343W unknown
CSF3R R367W unknown
CSF3R R418H unknown
CSF3R R428K unknown
CSF3R R440Q unknown
CSF3R R484T unknown
CSF3R R583L unknown
CSF3R R769C unknown
CSF3R S374Y unknown
CSF3R S469Afs*22 loss of function - predicted
CSF3R S469Qfs*5 loss of function - predicted
CSF3R S473G unknown
CSF3R S573F unknown
CSF3R S581F unknown
CSF3R S581P unknown
CSF3R S581R no effect - predicted
CSF3R S582F unknown
CSF3R S594G unknown
CSF3R S624L unknown
CSF3R S651N unknown
CSF3R S669G unknown
CSF3R S715* no effect - predicted
CSF3R S772A gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R S783fs gain of function - predicted
CSF3R S79F unknown
CSF3R T137I unknown
CSF3R T234I unknown
CSF3R T476I unknown
CSF3R T615A gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R T618I gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R T618I CSF3R W791*
CSF3R T640N gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R T690M unknown
CSF3R T738* gain of function - predicted JAK Inhibitor (Pan) - ATP competitive
CSF3R T799S unknown
CSF3R V178M unknown
CSF3R V728* unknown
CSF3R V812F unknown
CSF3R W105R unknown
CSF3R W202S unknown
CSF3R W279* loss of function - predicted
CSF3R W341C gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R W356S unknown
CSF3R W547R unknown
CSF3R W791* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R wild-type no effect
CSF3R Y121S unknown
CSF3R Y196H unknown
CSF3R Y752* unknown