EGFR

EGFR编码的蛋白是一种跨膜糖蛋白,也是表皮生长因子受体家族中的一员,该家族包括HER1(erbB1,EGFR)、HER2(erbB2,NEU)、HER3(erbB3)及HER4(erbB4),也属于受体酪氨酸激酶家族。EGFR作为细胞表面蛋白可与配体如表皮生长因子(EGF)结合,EGFR可被激活,由单体转化为二聚体以及发生自体酪氨酸磷酸化,激活后的EGFR可以再磷酸化下游蛋白,包括调控细胞存活的PI3K-AKT-mTOR信号通路 和调控细胞增殖的RAS-RAF-MEK-ERK信号通路,EGFR的突变和表达水平的升高与多种癌症相关,其中肺癌最为常见。

别名

ERBB,ERBB1,HER1,NISBD2,PIG61,mENA

基因id

Chromosome:7 Start: 55086714 End: 55324313 Strand: 1

突变与药物

L858R T790M E746_A750delELREA EXON 19 DELETION MUTATION AMPLIFICATION OVEREXPRESSION S768I L747_P753delinsS G719S EXPRESSION VIII L747_S752del E746_T751>003eI G719A L747_T751>003eP E746V S492R EXON 20 INSERTION L747_P753>003eQ E746_S752>003eD L747_T751>003eQ L747_T751delLREAT L747_A750>003eP E746_T751delinsA A763_Y764insFQEA S784F R831H D770_N771insNPG A767_V769dupASV COPY NUMBER VARIATION Ex19 del L858R C797S K467T V742A D770_N771insSVD RARE EX 18-21 MUT L861R WILDTYPE EGFR-RAD51 fusion delE746_A750 R776C G810S D761N S768N H773_V774insH A859T V774_C775insHV E709_T710>003eD Y764_V765insHH Gain-of-function Y1092 PHOSPHORYLATION EXON 18 OVEREXPRESSION P753S V834I G719D L838P S720 D761Y V774A K806E T847I L747P N842S N826Y RARE EGRF MUT R705K EXON 4 DELETION G724S A289V E746G R451C S752_I759delSPKANKEI T725M M766_A767insASV delD770insGY delL747_P753insS P772_H773insH A702S E709K and G719A Exon 18 deletion E 709A and G719C I744_K745insKIPVAI A750T I462K I462R S464L S464T G465E G465V K467N K489Q K489E I491K I491R S492C V441G V441D V441F S442R S442I F404I F404V T415M A864T N826S E746_T751delinsVA L838V T263P R108K E884K E709Q E746_S752>003eA P848L V851I T854A E868G S768_D770dup H773_V774insNPH D770_N771insGL D770_N771insGT W731L E734Q T785A C797Y Y801H V769A L747_S752INSQ N771>003eGY P546S E746_A750>003eIP K745_E749delKELRE N771DELinsVH M766_A767insAI D770_N771insGY P772_H773insYNP P772_V774insPHV Y69FS*11 3' UTR MUTATION AUTOCRINE ACTIVATION G465R G719 K757R V769_770insASV L861Q L861 V774M
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相关基因检测

genes