Transcript #00015983 (NM_000318.2, PEX2 gene)

Transcript name transcript variant 1
Gene name PEX2 (peroxisomal biogenesis factor 2)
Chromosome 8
Transcript - NCBI ID NM_000318.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000309.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

54 entries on 1 page. Showing entries 1 - 54.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-160+1G>A r.spl? p.?
-/. 4 c.-17-41G>T r.(?) p.(=)
-/. - c.-13del r.(?) p.(=)
?/. - c.61G>A r.(?) p.(Asp21Asn)
-?/. - c.91C>G r.(?) p.(Gln31Glu)
+/. 4 c.115C>T r.(?) p.(Gln39*)
+/. - c.163G>A r.163g>a p.Glu55Lys
?/. - c.209A>G r.(?) p.(Tyr70Cys)
?/. - c.209A>G r.(?) p.(Tyr70Cys)
+/. 4 c.273del r.(?) p.(Asn92Thrfs*2)
+/. 4 c.279_283del r.(?) p.(Arg94Serfs*5)
-?/. - c.282A>T r.(?) p.(Arg94Ser)
?/. - c.282A>T r.(?) p.(Arg94Ser)
+?/. - c.286C>T r.(?) p.(Gln96Ter)
+/. 4 c.286C>T r.(?) p.(Gln96*)
+?/. - c.310dup r.(?) p.(Ile104AsnfsTer19)
-?/. - c.322G>C r.(?) p.(Val108Leu)
+/. 4 c.325dup r.(?) p.(Cys109Leufs*14)
-?/. - c.330A>G r.(?) p.(Thr110=)
+/. 4 c.339_345del r.(?) p.(Arg114*)
+/. 4 c.339_345del r.(?) p.(Arg114*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.(?) p.(Arg119*)
+/. 4 c.355C>T r.355c>u p.Arg119*
+/. 4 c.355C>T r.355c>u p.Arg119*
+/. - c.355C>T r.(?) p.(Arg119*)
+/. - c.355C>T r.(?) p.(Arg119*)
-/. - c.373C>A r.(?) p.(Arg125=)
+/. 4 c.373C>T r.(?) p.(Arg125*)
+/. - c.373C>T r.(?) p.(Arg125*)
-/. - c.550= r.(=) p.(Arg184=)
+/. 4 c.550del r.(?) p.(Cys184Valfs*8)
-/. - c.550T>C r.(?) p.(Cys184Arg)
-?/. - c.556G>A r.(?) p.(Val186Ile)
-?/. - c.585T>A r.(?) p.(Leu195=)
+/. 4 c.642del r.(?) p.(Lys215Serfs*2)
+/. 4 c.669G>A r.(?) p.(Trp223*)
-?/. - c.698G>A r.(?) p.(Ser233Asn)
+/. 4 c.739T>C r.(?) p.(Cys247Arg)
?/. - c.748T>C r.(?) p.(Trp250Arg)
-?/. - c.748T>C r.(?) p.(Trp250Arg)
-?/. - c.748T>C r.(?) p.(Trp250Arg)
+/. 4 c.782A>G r.(?) p.(His261Arg)
+/. 4 c.791G>A r.(?) p.(Cys264Tyr)
-?/. - c.820T>C r.(?) p.(Phe274Leu)
+/. 4 c.834_838del r.(?) p.(Phe278Leufs*3)
+/. - c.865dup r.(?) p.(Ser289Lysfs*36)
+/. - c.865dup r.(?) p.(Ser289Lysfs*36)
+/. 4 c.866dup r.(?) p.(Ser289Argfs*36)
?/. - c.869T>G r.(?) p.(Leu290Arg)
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