Genename Variants
GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) g.1:151089885G>C,c.940G>C,p.G314R
GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) g.1:151076116C>T,c.701C>T,p.A234V
GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) g.1:151070457A>G,c.601A>G,p.T201A
GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) g.1:151062957G>A,c.184G>A,p.V62I
GABPB1(NM_005254,GA binding protein transcription factor, beta subunit 1,395aa) g.15:50593417C>A,c.619+1G>T,p.207Donor
GABPB1(NM_005254,GA binding protein transcription factor, beta subunit 1,395aa) g.15:50593003T>C,c.716A>G,p.N239S
GABPA(NM_002040,GA binding protein transcription factor, alpha subunit 60kDa,454aa) g.21:27141527C>T,c.1349C>T,p.T450M
GABPA(NM_002040,GA binding protein transcription factor, alpha subunit 60kDa,454aa) g.21:27117541C>T,c.98C>T,p.A33V
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101470751T>C,c.269A>G,p.N90S
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101304186G>A,c.599C>T,p.T200M
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101151281C>T,c.1384G>A,p.E462K
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101065617G>A,c.2318C>T,p.T773M
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101056122T>C,c.2605A>G,p.T869A
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101056109C>T,c.2618G>A,p.R873Q
GABBR2(NM_005458,gamma-aminobutyric acid (GABA) B receptor, 2,941aa) g.9:101052937C>T,c.2755G>A,p.V919I
GABBR1(NM_001470,gamma-aminobutyric acid (GABA) B receptor, 1,961aa) g.6:29600104G>A,c.59C>T,p.A20V
GABBR1(NM_001470,gamma-aminobutyric acid (GABA) B receptor, 1,961aa) g.6:29599214G>C,c.248C>G,p.A83G
GABBR1(NM_001470,gamma-aminobutyric acid (GABA) B receptor, 1,961aa) g.6:29576437A>G,c.1933T>C,p.F645L
GABBR1(NM_001470,gamma-aminobutyric acid (GABA) B receptor, 1,961aa) g.6:29576386C>T,c.1984G>A,p.V662I
GABBR1(NM_001470,gamma-aminobutyric acid (GABA) B receptor, 1,961aa) g.6:29571342C>T,c.2864G>A,p.R955Q
GABARAPL2(NM_007285,GABA(A) receptor-associated protein-like 2,117aa) g.16:75601983C>T,c.139C>T,p.R47W
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17469049C>A,c.487G>T,p.G163X
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17468928G>A,c.608C>T,p.P203L
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17468918C>A,c.618G>T,p.W206C
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17468901G>A,c.635C>T,p.P212L
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17468886G>A,c.650C>T,p.S217L
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17468875C>T,c.661G>A,p.A221T
GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) g.22:17450952A>G,c.818T>C,p.L273P
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org