Transcript #00015998 (NM_017929.5, PEX26 gene)

Transcript name transcript variant 1
Gene name PEX26 (peroxisomal biogenesis factor 26)
Chromosome 22
Transcript - NCBI ID NM_017929.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_060399.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

60 entries on 1 page. Showing entries 1 - 60.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 2 c.2T>C r.(?) p.0?
?/. - c.32C>T r.(?) p.(Pro11Leu)
+?/. - c.34del r.(?) p.(Leu12Serfs*70)
+/. 1 c.34dup r.(?) p.(Leu12Profs*103)
+/. 2 c.37_38del r.(?) p.(Arg13Glyfs*101)
+/. 2 c.37_38del r.(?) p.(Arg13Glyfs*101)
+/. 2 c.73_79del r.(?) p.(Val25Argfs*55)
-?/. - c.98C>T r.(?) p.(Pro33Leu)
-/. - c.130C>T r.(?) p.(Leu44Phe)
+/. 2 c.131T>C r.(?) p.(Leu44Pro)
+/. - c.134T>C r.(?) p.(Leu45Pro)
+/. 2 c.185G>A r.(?) p.(Trp62*)
+/. 2 c.192_216del r.(?) p.(Ser64Argfs*10)
+/. 2 c.192_216del r.(?) p.(Ser64Argfs*10)
-?/. - c.200A>G r.(?) p.(Asn67Ser)
+/. 2i c.230+1G>T r.[230_231ins[u;230+2_230+173],230_231ins[u;230+2_230+236],230_231ins[u;230+2_231-618]] p.?
+/. 3 c.254dup r.(?) p.(Cys86Valfs*29)
+/. - c.265G>A r.(?) p.(Gly89Arg)
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.292C>T r.292c>u p.Arg98Trp
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 4 c.292C>T r.(?) p.(Arg98Trp)
+/. - c.292C>T r.(?) p.(Arg98Trp)
+/. - c.292C>T r.(?) p.(Arg98Trp)
+?/. - c.292C>T r.(?) p.(Arg98Trp)
+/. - c.292C>T r.(?) p.(Arg98Trp)
+/. - c.292C>T r.(?) p.(Arg98Trp)
+/. - c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.292C>T r.(?) p.(Arg98Trp)
+/. 3 c.296G>A r.(?) p.(Trp99*)
+/. - c.296G>A r.(?) p.(Trp99*)
+/. 3 c.296G>A r.(?) p.(Trp99*)
+/. 3 c.315G>A r.(?) p.(Trp105*)
+/. 3 c.350C>T r.(?) p.(Pro117Leu)
+/. - c.353C>G r.(?) p.(Pro118Arg)
+/. 3 c.353C>G r.(?) p.(Pro118Arg)
+?/. - c.359T>G r.(?) p.(Val120Gly)
-?/. - c.409G>C r.(?) p.(Val137Leu)
-/. - c.457C>G r.(?) p.(Leu153Val)
?/. - c.457C>G r.(?) p.(Leu153Val)
-/. - c.457C>G r.(?) p.(Leu153Val)
-/. - c.457C>G r.(?) p.(Leu153Val)
+/. - c.547_548ins[T;426_547] r.(?) p.[Gly183Val;insAla143_Val182]
+/. - c.574C>T r.(?) p.(Arg192*)
+/. 4 c.574C>T r.(?) p.(Arg192*)
?/. - c.628C>T r.(?) p.(His210Tyr)
?/. - c.635G>T r.(?) p.(Gly212Val)
+/. - c.667+2T>C r.spl p.?
+/. 3i c.667+2T>C r.spl p.?
-?/. - c.667+8A>G r.(=) p.(=)
-?/. - c.668-5G>T r.spl? p.?
-?/. - c.728C>T r.(?) p.(Ala243Val)
?/. - c.743T>C r.(?) p.(Phe248Ser)
+/. - c.862del r.(?) p.(Arg288Alafs*79)
-?/. - c.911G>A r.(?) p.(Arg304His)
-/. - c.*167G>A r.(=) p.(=)
?/. - c.*2162G>A r.(=) p.(=)
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