Transcript #00025574 (NM_001195248.1, APTX gene)

Transcript name transcript variant 6
Gene name APTX (aprataxin)
Chromosome 9
Transcript - NCBI ID NM_001195248.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001182177.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

65 entries on 1 page. Showing entries 1 - 65.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.38+16G>T r.(=) p.(=)
-?/. - c.39-15T>C r.(=) p.(=)
?/. - c.43A>G r.(?) p.(Met15Val)
?/. - c.60G>T r.(?) p.(Trp20Cys)
-?/. - c.80G>A r.(?) p.(Arg27Gln)
?/. - c.167G>T r.(?) p.(Arg56Leu)
?/. - c.245T>C r.(?) p.(Ile82Thr)
-?/. - c.253G>T r.(?) p.(Val85Phe)
-?/. - c.276G>A r.(?) p.(Glu92=)
-?/. - c.360C>T r.(?) p.(Asn120=)
-/. - c.360C>T r.(?) p.(Asn120=)
-?/. - c.389A>G r.(?) p.(Lys130Arg)
-/. - c.420G>A r.(?) p.(Arg140=)
-/. - c.473C>A r.(?) p.(Ser158Tyr)
-/. - c.473C>A r.(?) p.(Ser158Tyr)
-/. - c.499A>G r.(?) p.(Lys167Glu)
-/. - c.526-25G>T r.(=) p.(=)
?/. - c.526-25_526-6del r.(=) p.(=)
-/. - c.526-25_526-5del r.spl? p.?
-?/. - c.526-25_526-5del r.spl? p.?
-/. - c.526-25_526-4del r.spl? p.?
-?/. - c.526-25_526-4del r.spl? p.?
-/. - c.526-25_526-4del r.spl? p.?
-/. - c.526-21_526-20insGT r.(=) p.(=)
-?/. - c.526-13del r.(=) p.(=)
-?/. - c.526-13G>T r.(=) p.(=)
-/. - c.526-13G>T r.(=) p.(=)
-/. - c.526-12T>G r.(=) p.(=)
-/. - c.526-12T>G r.(=) p.(=)
-?/. - c.526-12_526-11insG r.(=) p.(=)
-/. - c.526-12_526-11insG r.(=) p.(=)
-/. - c.526-3del r.spl? p.?
-/. - c.526-3del r.spl? p.?
-?/. - c.526-3del r.spl? p.?
-?/. - c.526-3T>C r.spl? p.?
?/. - c.535G>T r.(?) p.(Gly179Cys)
?/. - c.547C>T r.(?) p.(Gln183Ter)
-/. - c.585+30A>C r.(=) p.(=)
+/. - c.601C>T r.(?) p.(Gln201Ter)
+/. - c.601C>T r.(?) p.(Gln201Ter)
+/. - c.635C>T r.(?) p.(Ala212Val)
+?/. - c.638del r.(?) p.(Arg213Leufs*15)
+/. - c.638G>A r.(?) p.(Arg213His)
?/. - c.638G>A r.(?) p.(Arg213His)
-?/. - c.773T>C r.(?) p.(Leu258Pro)
?/. - c.776G>A r.(?) p.(Arg259His)
+/. - c.781C>T r.(?) p.(Arg261Ter)
?/. - c.784T>A r.(?) p.(Leu262Met)
?/. - c.804G>A r.(?) p.(Pro268=)
-/. - c.813-13_813-12dup r.(=) p.(=)
-/. - c.813-12dup r.(=) p.(=)
-/. - c.813-12dup r.(=) p.(=)
+/. - c.879G>A r.(?) p.(Trp293Ter)
+/. - c.879G>A r.(?) p.(Trp293Ter)
+/. - c.879G>A r.(?) p.(Trp293Ter)
+/+ 7 c.887del r.(887del) p.(Phe296Serfs*7)
+/+ 7 c.887delT r.(?) p.(Phe296Serfs*7)
?/. - c.889A>G r.(?) p.(Asn297Asp)
-?/. - c.889A>G r.(?) p.(Asn297Asp)
-/. - c.917-60del r.(=) p.(=)
-?/. - c.960A>G r.(?) p.(Arg320=)
-/. - c.1013A>T r.(?) p.(Gln338Leu)
-?/. - c.1013A>T r.(?) p.(Gln338Leu)
-?/. - c.1013A>T r.(?) p.(Gln338Leu)
-?/. - c.1027A>G r.(?) p.(Ile343Val)
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