Transcript #00000545 (NM_004961.3, GABRE gene)

Transcript name gamma-aminobutyric acid (GABA) A receptor, epsilon
Gene name GABRE (gamma-aminobutyric acid (GABA) A receptor, epsilon)
Chromosome X
Transcript - NCBI ID NM_004961.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004952.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.32G>T r.(?) p.(Gly11Val)
-?/. - c.61G>A r.(?) p.(Glu21Lys)
-?/. - c.113A>G r.(?) p.(Tyr38Cys)
-?/. - c.154G>A r.(?) p.(Glu52Lys)
-?/. - c.154G>A r.(?) p.(Glu52Lys)
?/. - c.186G>A r.(=) p.(=)
-?/. - c.196G>A r.(?) p.(Gly66Ser)
?/. - c.259C>T r.(?) p.(Arg87Cys)
?/. - c.304T>G r.(?) p.(Ser102Ala)
?/. - c.304T>G r.(?) p.(Ser102Ala)
?/. - c.304T>G r.(?) p.(Ser102Ala)
?/. - c.343-225T>C r.(=) p.(=)
?/. - c.343-225T>C r.(=) p.(=)
?/. - c.399C>A r.(?) p.(Tyr133Ter)
?/. - c.564-166A>G r.(=) p.(=)
?/. - c.564-166A>G r.(=) p.(=)
?/. - c.579C>T r.(=) p.(=)
?/. - c.647-314A>T r.(=) p.(=)
?/. - c.647-314A>T r.(=) p.(=)
-?/. - c.714C>A r.(?) p.(Asn238Lys)
?/. - c.795G>C r.(?) p.(Met265Ile)
-?/. - c.833G>C r.(?) p.(Gly278Ala)
-?/. - c.1162G>A r.(?) p.(Ala388Thr)
-?/. - c.1162G>A r.(?) p.(Ala388Thr)
-?/. - c.1259G>A r.(?) p.(Arg420His)
?/. - c.1325C>A r.(?) p.(Ser442Tyr)
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