Transcript #00015993 (NM_000286.2, PEX12 gene)

Transcript name peroxisomal biogenesis factor 12
Gene name PEX12 (peroxisomal biogenesis factor 12)
Chromosome 17
Transcript - NCBI ID NM_000286.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000277.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

76 entries on 1 page. Showing entries 1 - 76.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.16dup r.(?) p.(Ala6Glyfs*11)
+/. - c.26_27del r.(?) p.(Thr9Serfs*7)
+/. - c.102A>T r.(?) p.(Arg34Ser)
-/. - c.102A>T r.(?) p.(Arg34Ser)
-/. - c.102A>T r.(?) p.(Arg34Ser)
+/. 1 c.102A>T r.(?) p.(Arg34Ser)
?/. - c.102A>T r.(?) p.(Arg34Ser)
+?/. - c.126+1G>T r.spl? p.?
+/. - c.126+1G>T r.spl? p.?
+/. 1i c.126+1G>T r.spl p.?
+/. 1i c.126+1G>T r.spl p.?
+/. 2 c.204_206del r.(?) p.(Leu70del)
+/. 2 c.220T>G r.(?) p.(Tyr74Asp)
+/. 2 c.260_261insAA r.(?) p.(Tyr87*)
+/. 2 c.268_271del r.(?) p.(Lys90Glufs*3)
+/. 2 c.273A>T r.(?) p.(Arg91Ser)
+/. 2 c.308dup r.(?) p.(Leu103Phefs*3)
+/. - c.378_380del r.(?) p.(Lys127del)
+/. 2 c.445_454del r.(?) p.(Ser149Glyfs*15)
-?/. - c.451C>T r.(?) p.(Arg151Cys)
?/. - c.456G>T r.(?) p.(Trp152Cys)
+/. 2 c.460C>T r.(?) p.(Arg154*)
+/. - c.478_479del r.(?) p.(Leu160Glyfs*57)
+/. 2 c.533_535del r.(?) p.(Gln178del)
+/. 2 c.533_535del r.(?) p.(Gln178del)
+/. 2 c.538C>T r.(?) p.(Arg180*)
+/. - c.538C>T r.(?) p.(Arg180*)
+/. - c.538C>T r.(?) p.(Arg180*)
+/. - c.538C>T r.(?) p.(Arg180*)
+/. 2 c.541dup r.(?) p.(Tyr181Leufs*37)
+/. 2 c.541dup r.(?) p.(Tyr181Leufs*37)
+/. 2 c.604C>T r.(?) p.(Arg202*)
+?/. - c.616C>T r.(?) p.(Gln206*)
+/. - c.625C>T r.(?) p.(Gln209*)
-?/. - c.680+3A>G r.spl? p.?
?/. - c.681-2A>C r.spl? p.?
+/. 2i c.681-2A>C r.spl p.?
+/. - c.681-2A>C r.spl p.?
+/. 3 c.684_687del r.(?) p.(Ser229Argfs*3)
+/. - c.691A>T r.(?) p.(Lys231*)
+/. 3 c.730_733dup r.(?) p.(Leu245Cysfs*19)
+/. 3 c.730_733dup r.(?) p.(Leu245Cysfs*19)
+/. - c.730_733dup r.(?) p.(Leu245Cysfs*19)
-/. - c.733T>A r.(?) p.(Leu245Ile)
+/. - c.744dup r.(?) p.(Thr249Tyrfs*14)
?/. - c.758T>C r.(?) p.(Val253Ala)
+?/. 3 c.758T>C r.(?) p.(Phe1765Ser)
+/. - c.765_766dup r.(?) p.(Phe256Tyrfs*22)
+/. 3 c.775C>T r.(?) p.(Gln259*)
-/. - c.867C>T r.(?) p.(Asp289=)
+/. 3 c.875_876del r.(?) p.(Ser292*)
+/. 3 c.875_876del r.(?) p.(Ser292*)
+/. 3 c.887del r.(?) p.(Leu296Profs*5)
+/. 3 c.887del r.(?) p.(Leu296Profs*5)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. - c.888_889del r.(?) p.(Leu297Thrfs*12)
+/. 3 c.920G>A r.(?) p.(Cys307Tyr)
+/. - c.949C>T r.(?) p.(Leu317Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.959C>T r.(?) p.(Ser320Phe)
+/. 3 c.1047_1049del r.(?) p.(Gln349del)
+/. - c.1047_1049del r.(?) p.(Gln349del)
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