基因名 突变
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558482A>G,c.644A>G,p.H215R
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558467C>T,c.629C>T,p.T210M
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558163C>T,c.325C>T,p.R109W
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558064A>G,c.226A>G,p.M76V
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40557027C>T,c.41C>T,p.A14V
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40557012G>A,c.26G>A,p.R9H
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39669106C>G,c.1663C>G,p.R555G
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39664580C>T,c.1028C>T,p.S343L
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39664498G>A,c.946G>A,p.D316N
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39664295G>A,c.743G>A,p.R248Q
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39664231G>A,c.679G>A,p.V227M
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39663960C>T,c.607C>T,p.R203W
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39663897G>A,c.544G>A,p.G182R
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39663768G>A,c.415G>A,p.A139T
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39663762C>T,c.409C>T,p.R137W
PAK4(NM_001014831,p21 protein (Cdc42/Rac)-activated kinase 4,591aa) g.19:39663757G>A,c.404G>A,p.R135Q
PAK2(NM_002577,p21 protein (Cdc42/Rac)-activated kinase 2,524aa) g.3:196539089del,c.774-1del,p.258Acceptordel
PAK2(NM_002577,p21 protein (Cdc42/Rac)-activated kinase 2,524aa) g.3:196529982A>G,c.383A>G,p.K128R
PAK2(NM_002577,p21 protein (Cdc42/Rac)-activated kinase 2,524aa) g.3:196509577C>G,c.60C>G,p.S20R
PAK2(NM_002577,p21 protein (Cdc42/Rac)-activated kinase 2,524aa) g.3:196509522C>G,c.5C>G,p.S2C
PAK1(NM_001128620,p21 protein (Cdc42/Rac)-activated kinase 1,553aa) g.11:77069989_77069990insCAT,c.550_551insATG,p.184ins1aa
PAK1IP1(NM_017906,PAK1 interacting protein 1,392aa) g.6:10709632G>A,c.1126G>A,p.V376I
PAK1IP1(NM_017906,PAK1 interacting protein 1,392aa) g.6:10709581A>G,c.1075A>G,p.K359E
PAK1IP1(NM_017906,PAK1 interacting protein 1,392aa) g.6:10702799G>A,c.370G>A,p.G124R
PAIP2B(NM_020459,poly(A) binding protein interacting protein 2B,123aa) g.2:71429686T>A,c.34A>T,p.S12C
PAIP2B(NM_020459,poly(A) binding protein interacting protein 2B,123aa) g.2:71429659A>T,c.61T>A,p.L21I
PAIP1(NM_006451,poly(A) binding protein interacting protein 1,479aa) g.5:43556900G>A,c.49C>T,p.R17W
PAIP1(NM_006451,poly(A) binding protein interacting protein 1,479aa) g.5:43548008T>C,c.443A>G,p.Y148C
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org