Transcript #00006471

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

68 entries on 1 page. Showing entries 1 - 68.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.105G>T r.(?) p.(Glu35Asp)
?/? c.146A>G r.(?) p.(Asn49Ser)
?/? c.149+13C>T r.(=) p.(=)
?/? c.150-30C>T r.(=) p.(=)
?/? c.239-42T>G r.(=) p.(=)
?/? c.239-28C>T r.(=) p.(=)
?/? c.306+53C>T r.(=) p.(=)
?/? c.307-47C>T r.(=) p.(=)
?/? c.307-32C>G r.(=) p.(=)
?/? c.326T>G r.(?) p.(Phe109Cys)
?/? c.357A>C r.(?) p.(Leu119Phe)
?/? c.365A>G r.(?) p.(Tyr122Cys)
?/? c.421C>T r.(?) p.(Pro141Ser)
?/? c.527+7C>T r.(=) p.(=)
?/? c.527+29C>T r.(=) p.(=)
?/? c.574A>G r.(?) p.(Met192Val)
?/? c.582G>A r.(=) p.(=)
?/? c.602T>C r.(?) p.(Val201Ala)
?/? c.610+5G>A r.spl? p.?
?/? c.610+24C>T r.(=) p.(=)
?/? c.610+30C>T r.(=) p.(=)
?/? c.610+31G>A r.(=) p.(=)
?/? c.610+33A>G r.(=) p.(=)
?/? c.632T>C r.(?) p.(Ile211Thr)
?/? c.705C>T r.(=) p.(=)
?/? c.717G>A r.(=) p.(=)
?/? c.729G>A r.(=) p.(=)
?/? c.748+9G>A r.(=) p.(=)
?/? c.748+29T>A r.(=) p.(=)
?/? c.748+52A>G r.(=) p.(=)
?/? c.749-51G>A r.(=) p.(=)
?/? c.749-44C>T r.(=) p.(=)
?/? c.749-30C>T r.(=) p.(=)
?/? c.760C>T r.(?) p.(Arg254Cys)
?/? c.902-24_902-23del r.(=) p.(=)
?/? c.902-5T>C r.spl? p.?
?/? c.933C>T r.(=) p.(=)
?/? c.946C>T r.(?) p.(Arg316Trp)
?/? c.969C>T r.(=) p.(=)
?/? c.989T>C r.(?) p.(Ile330Thr)
?/? c.1079G>A r.(?) p.(Arg360His)
?/? c.1090C>T r.(?) p.(Arg364*)
?/? c.1105C>T r.(?) p.(Arg369*)
?/? c.1126C>T r.(?) p.(Arg376Cys)
?/? c.1127G>A r.(?) p.(Arg376His)
?/? c.1158+39C>T r.(=) p.(=)
?/? c.1240C>T r.(?) p.(Leu414Phe)
?/? c.1264G>A r.(?) p.(Glu422Lys)
?/? c.1319G>A r.(?) p.(Gly440Asp)
?/? c.1321C>A r.(?) p.(Gln441Lys)
?/? c.1330C>T r.(=) p.(=)
?/? c.1353C>G r.(?) p.(Ser451Arg)
?/? c.1357C>T r.(?) p.(Leu453Phe)
?/? c.1362C>T r.(=) p.(=)
?/? c.1399C>T r.(?) p.(Arg467Cys)
?/? c.1448G>A r.(?) p.(Arg483His)
?/? c.1454G>A r.(?) p.(Arg485His)
?/? c.1464C>T r.(=) p.(=)
?/? c.1482C>A r.(=) p.(=)
?/? c.1517C>T r.(?) p.(Ser506Leu)
?/? c.1518G>A r.(=) p.(=)
?/? c.1520A>T r.(?) p.(Asp507Val)
?/? c.1567G>A r.(?) p.(Gly523Ser)
?/? c.1610A>G r.(?) p.(Asn537Ser)
?/? c.1613A>G r.(?) p.(Asn538Ser)
?/? c.1661C>T r.(?) p.(Thr554Ile)
?/? c.*1_*2insC r.(=) p.(=)
?/? c.*23G>A r.(=) p.(=)
Legend