Transcript #00024253 (NM_001267578.1, TOR1AIP1 gene)

Transcript name transcript variant 1
Gene name TOR1AIP1 (torsin A interacting protein 1)
Chromosome 1
Transcript - NCBI ID NM_001267578.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001254507.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

28 entries on 1 page. Showing entries 1 - 28.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.70C>G r.(?) p.(Pro24Ala)
-?/. - c.70C>G r.(?) p.(Pro24Ala)
+/. - c.128del r.(?) p.(Pro43Leufs*15)
?/. - c.144_146del r.(?) p.(Pro49del)
+/. 1 c.186del r.(?) p.(Glu62Aspfs*26)
-/. - c.437T>C r.(?) p.(Met146Thr)
-/. - c.554-1G>A r.spl? p.?
-/. - c.579G>A r.(?) p.(Arg193=)
-/. - c.830C>G r.(?) p.(Pro277Arg)
-?/. - c.841+12G>A r.(=) p.(=)
-?/. - c.841+16T>G r.(=) p.(=)
-/. - c.882A>C r.(?) p.(Gln294His)
?/. - c.912T>C r.(?) p.(Asn304=)
-?/. - c.912T>C r.(?) p.(Asn304=)
+/. 9 c.945_948del r.(?) p.(Gln315Hisfs*9)
+/. 9 c.964C>T r.(?) p.(Arg322*)
-/. - c.967+1G>A r.spl? p.?
-/. - c.967+1G>A r.spl? p.?
-/. - c.967+17A>G r.(=) p.(=)
-?/. - c.1150G>A r.(?) p.(Asp384Asn)
-?/. - c.1150G>A r.(?) p.(Asp384Asn)
+/. - c.1184T>C r.(?) p.(Leu395Pro)
+/. 10 c.1331G>C r.(?) p.(Arg444Pro)
?/. - c.1430C>T r.(?) p.(Ala477Val)
+?/. 10 c.1448A>C r.(?) p.(Glu483Ala)
-/. - c.1506G>A r.(?) p.(Ala502=)
-?/. - c.1617C>A r.(?) p.(Val539=)
?/. - c.1753T>C r.(?) p.(Ter585Glnext*?)
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