Transcript #00001158 (NM_018558.2, GABRQ gene)

Transcript name gamma-aminobutyric acid (GABA) receptor, theta
Gene name GABRQ (gamma-aminobutyric acid (GABA) A receptor, theta)
Chromosome X
Transcript - NCBI ID NM_018558.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_061028.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.46A>T r.(?) p.(Ile16Phe)
?/. - c.150-209del r.(=) p.(=)
?/. - c.150-209del r.(=) p.(=)
?/. - c.150-199del r.(=) p.(=)
?/. - c.150-199del r.(=) p.(=)
?/. - c.218G>T r.(?) p.(Arg73Leu)
?/. - c.610+24C>T r.(=) p.(=)
?/. - c.610+24C>T r.(=) p.(=)
?/. - c.611-197C>T r.(=) p.(=)
?/. - c.611-197C>T r.(=) p.(=)
-?/. - c.633C>T r.(?) p.(Ile211=)
-?/. - c.660C>T r.(=) p.(=)
?/. - c.760C>T r.(?) p.(Arg254Cys)
?/. - c.805C>T r.(?) p.(Leu269Phe)
?/. - c.901+280A>G r.(=) p.(=)
?/. - c.901+280A>G r.(=) p.(=)
?/. - c.1036T>A r.(?) p.(Tyr346Asn)
?/. - c.1090C>T r.(?) p.(Arg364Ter)
?/. - c.1090C>T r.(?) p.(Arg364Ter)
?/. - c.1090C>T r.(?) p.(Arg364Ter)
?/. - c.1123T>A r.(?) p.(Tyr375Asn)
-?/. - c.1206C>G r.(?) p.(Thr402=)
?/. - c.1432T>A r.(?) p.(Phe478Ile)
?/. - c.1432T>A r.(?) p.(Phe478Ile)
-?/. - c.1432_1434del r.(?) p.(Phe478del)
-?/. - c.1464C>T r.(=) p.(=)
?/. - c.1465C>T r.(?) p.(His489Tyr)
?/. - c.1502A>G r.(?) p.(Asn501Ser)
?/. - c.1567G>A r.(?) p.(Gly523Ser)
?/. - c.1586A>C r.(?) p.(Glu529Ala)
Legend   How to query