Transcript #00015994 (NM_002618.3, PEX13 gene)

Transcript name peroxisomal biogenesis factor 13
Gene name PEX13 (peroxisomal biogenesis factor 13)
Chromosome 2
Transcript - NCBI ID NM_002618.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002609.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_4_ c.-83_*3220[0] r.0 p.0
+/. - c.10C>T r.(?) p.(Gln4Ter)
-?/. - c.32C>T r.(?) p.(Pro11Leu)
+/. - c.92+2T>G r.spl p.?
+/. - c.107_120del r.(?) p.(Gly36Aspfs*26)
?/. - c.355G>A r.(?) p.(Val119Ile)
+/. - c.439_441del r.(?) p.(Met147del)
?/. - c.599G>A r.(?) p.(Gly200Asp)
+/. - c.676C>T r.(?) p.(Arg226*)
+/. - c.702G>A r.702g>a p.Trp234*
+/. - c.937T>G r.937u>g p.Trp313Gly
+/. - c.977T>C r.977u>c p.Ile326Thr
+/. - c.980C>G r.(?) p.(Pro327Arg)
-?/. - c.1090G>A r.(?) p.(Ala364Thr)
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