Transcript #00000946 (NM_000116.3, TAZ gene)

Transcript name transcript variant 1
Gene name TAZ (tafazzin)
Chromosome X
Transcript - NCBI ID NM_000116.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000107.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

468 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-74340_*1073086dup - -
./. - c.-69773_*211765dup r.0? p.0?
?/. - c.-12339A>G r.(?) p.(=)
+/. - c.-12010A>G r.(?) p.(=)
-?/. - c.-11384C>T r.(?) p.(=)
+?/. - c.-11248G>A r.(?) p.(=)
?/. - c.-11066C>T r.(?) p.(=)
-/. - c.-11026A>G r.(?) p.(=)
-?/. - c.-11023G>A r.(?) p.(=)
-?/. - c.-10998C>T r.(?) p.(=)
?/. - c.-10937C>G r.(?) p.(=)
-?/. - c.-10933C>T r.(?) p.(=)
?/. - c.-8890C>T r.(?) p.(=)
?/. - c.-7020G>C r.(?) p.(=)
-?/. - c.-6845C>T r.(?) p.(=)
?/. - c.-6832G>A r.(?) p.(=)
?/. - c.-6399A>G r.(?) p.(=)
?/. - c.-6285G>A r.(?) p.(=)
+/. _1_11_ c.-1390_*4002del r.0? p.0?
-?/. 1 c.-121del r.(?) p.(=)
-?/. 1 c.-121del r.(?) p.(=)
-/. - c.-120del r.(?) p.(=)
-/. 1 c.-120del r.(?) p.(=)
-/. 1 c.-120del r.(?) p.(=)
-/. - c.-120dup r.(?) p.(=)
-/. - c.-88G>C r.(?) p.(=)
-/. 1 c.-88G>C r.(?) p.(=)
-/. 1 c.-88G>C r.(?) p.(=)
-/. 1 c.-88G>C r.(?) p.(=)
+?/. 1 c.-17C>T r.(?) p.(=)
+/. _1_4i c.(?_-1)_(370+1_371-1)del r.0? p.0?
+/. _1_4i c.(?_-1)_(370+1_371-1)del r.0? p.0?
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0?
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0?
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0?
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0?
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0?
+/. _1_11_ c.(?_-1)_(*1_?)del r.0? p.0?
+/. 1 c.9dup r.(?) p.(His4Alafs*130)
+?/. 1 c.13G>T r.(?) p.(Val5Leu)
?/. - c.30C>A r.(?) p.(Pro10=)
?/. - c.44T>G r.(?) p.(Leu15Arg)
-?/. - c.45C>T r.(?) p.(Leu15=)
?/. - c.45_46insT r.(?) p.(Thr16TyrfsTer118)
-/. 1 c.48C>G r.(?) p.(Thr16=)
?/. - c.50G>T r.(?) p.(Trp17Leu)
+/. 1 c.51G>A r.(?) p.(Trp17*)
+/. 1 c.51G>A r.(?) p.(Trp17*)
-/. - c.51G>C r.(?) p.(Trp17Cys)
?/. - c.52A>G r.(?) p.(Thr18Ala)
-?/. - c.53C>G r.(?) p.(Thr18Ser)
?/. - c.53C>T r.(?) p.(Thr18Ile)
+/. 1 c.54_55del r.54_55del p.Leu19Glyfs*114
+/. 1 c.62G>T r.(?) p.(Ser21Ile)
+/. 1 c.83T>A r.(?) p.(Val28Glu)
+/. 1 c.83_85del r.(?) p.(Val28del)
+/. 1 c.86G>A r.(?) p.(Gly29Asp)
+/. 1i c.109+1G>C r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18
+/. 1i c.109+5G>A r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18
+/. 1i c.109+5G>C r.[109_110ins109+1_109+54] p.Lys37Ser_Tyr38ins18
+/. 1i c.109+6T>C r.spl p.(=)
-/. 1i c.109+28C>T r.(=) p.(=)
-?/. - c.110-29G>T r.(=) p.(=)
-/. 1i c.110-17C>T r.(=) p.(=)
-/. 1i c.110-17C>T r.= p.=
-/. 1i c.110-17C>T r.(=) p.(=)
-/. - c.110-17C>T r.(=) p.(=)
-/. - c.110-17C>T r.(=) p.(=)
-/. - c.110-17C>T r.(=) p.(=)
-?/. - c.110-11T>C r.(=) p.(=)
-/. - c.110-6C>T r.(=) p.(=)
-?/. - c.110-6C>T r.(=) p.(=)
-?/. - c.110-3del r.spl? p.?
+/. 1i c.110-2A>G r.[110_238del, (110_111del)] p.[Lys37_Gly80del, Lys37fs]
+/. 1i c.110-2A>G r.spl p.?
+/. 1i c.110-2A>G r.spl p.?
+/. 1i c.110-1G>C r.spl p.?
+/. 2 c.118A>G r.(?) p.(Asn40Asp)
+/. 2 c.118A>G r.(?) p.Asn40Asp
+/. 2 c.118A>G r.(?) p.(Asn40Asp)
-/. 2 c.123C>T r.(?) p.(His41=)
+/. 2 c.124del r.(?) p.(Leu42*)
+/. 2 c.124del r.(?) p.(Leu42*)
+/. 2 c.127A>C r.(?) p.(Thr43Pro)
+/. 2 c.140_152del r.140_152del p.Arg47Thrfs*32
+/. 2 c.140_152del r.(?) p.Arg47Thrfs*32
+/. 2 c.140_152del r.(?) p.Arg47Thrfs*32
?/. - c.142G>A r.(?) p.(Glu48Lys)
?/. - c.142G>C r.(?) p.(Glu48Gln)
+/. 2 c.143delinsGG r.(?) p.(Glu48Glyfs*86)
+/. 2 c.149T>C r.(?) p.(Leu50Pro)
+/. 2 c.149T>C r.(?) p.(Leu50Pro)
+/. 2 c.149T>C r.(?) p.(Leu50Pro)
+/. 2 c.153C>G r.(?) p.(Tyr51*)
+/. 2 c.153C>G r.(?) p.(Tyr51*)
+/. 2 c.153C>G r.(?) p.(Tyr51*)
+/. 2 c.157dup r.(?) p.(Leu53Profs*81)
+/. 2 c.161T>A r.(?) p.(Ile54Asn)
+/. 2 c.163G>T r.(?) p.(Glu55*)
+/. 2 c.170G>T r.(?) p.(Arg57Leu)
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