Transcript #00015984 (NM_003630.2, PEX3 gene)

Transcript name peroxisomal biogenesis factor 3
Gene name PEX3 (peroxisomal biogenesis factor 3)
Chromosome 6
Transcript - NCBI ID NM_003630.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003621.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.122A>G r.(?) p.(Gln41Arg)
+/. - c.157C>T r.157c>u p.Arg53*
-/. - c.206-14del r.(=) p.(=)
+/. - c.206-1G>T r.[206_232del,206_287del,206_331del] p.[Val69_Arg77del,Val69Glyfs*6,Val69_Ser111delinsGly]
+/. - c.328_331del r.(?) p.(Ile110Valfs*23)
+/. - c.(334_393del) r.334_393del p.Phe102_Val131del
-?/. - c.382C>G r.(?) p.(Leu128Val)
-/. - c.524-19T>C r.(=) p.(=)
+/. - c.543dup r.(?) p.(Val182Cysfs*3)
+/. - c.856C>T r.(?) p.(Arg286*)
+/. - c.898C>T r.(?) p.(Arg300*)
+/. - c.942-8T>G r.942_1038del p.Ser314fs
+/. - c.991G>A r.(?) p.(Gly331Arg)
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