Transcript #00015989 (NM_153818.1, PEX10 gene)

Transcript name transcript variant 1
Gene name PEX10 (peroxisomal biogenesis factor 10)
Chromosome 1
Transcript - NCBI ID NM_153818.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_722540.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.1A>G r.(?) p.(Met1?)
+?/. - c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.2u>c p.0?
+/. - c.3G>A r.(?) p.0?
+/. 1 c.4del r.(?) p.(Ala2Profs*10)
+/. - c.4del r.(?) p.(Ala2Profs*10)
-?/. - c.6C>G r.(?) p.(Ala2=)
+/. 1 c.13_28delinsCCGCCAGCACCTGCGCCGCC r.13_28delinsccgccagcaccugcgccgcc p.Ala5Profs*47
+/. - c.52G>A r.(?) p.(Asp18Asn)
-?/. - c.92G>A r.(?) p.(Gly31Asp)
?/. - c.136A>G r.(?) p.(Arg46Gly)
+/. 3 c.203C>A r.(?) p.(Thr68Asn)
+/. 3 c.208G>C r.(?) p.(Gly70Arg)
+/. 3 c.211G>A r.(?) p.(Glu71Lys)
+/. 3 c.233A>G r.(?) p.(Gln78Arg)
-/. - c.279C>T r.(?) p.(Gly93=)
-/. - c.279C>T r.(=) p.(=)
-/. - c.279C>T r.(?) p.(Gly93=)
-/. - c.291A>G r.(=) p.(=)
-/. - c.291A>G r.(?) p.(Thr97=)
-?/. - c.316C>T r.(?) p.(Leu106=)
-/. - c.318G>A r.(?) p.(Leu106=)
+/. - c.337del r.(?) p.(Leu113Trpfs*40)
+/. 3 c.352C>T r.(?) p.(Gln118*)
+/. 3 c.373C>T r.373c>u p.Arg125*
-?/. - c.407G>A r.(?) p.(Arg136His)
-?/. - c.435G>A r.(?) p.(Met145Ile)
?/. - c.446C>T r.(?) p.(Thr149Met)
-?/. - c.492C>G r.(?) p.(Val164=)
?/. - c.595A>C r.(?) p.(Thr199Pro)
+/. 3i c.600+1G>A r.r.194_600del p.Gly65fs
?/. - c.664C>A r.(?) p.(Arg222Ser)
?/. - c.688G>A r.(?) p.(Asp230Asn)
+/. 4 c.697del r.(?) p.(Ala233Profs*131)
+/. - c.706dup r.(?) p.(Ser236Lysfs*123)
-/. - c.745G>C r.(?) p.(Val249Leu)
+/. 4 c.764dup r.(?) p.(Leu256Alafs*103)
+/. 4 c.764dup r.764dup p.Leu256Alafs*103
+/. - c.764dup r.764dup p.Leu256Alafs*103
+/. 4 c.764dupA r.(?) p.(Leu256Alafs*103)
+/. - c.765dup r.(?) p.(Leu256Alafs*103)
?/. - c.772G>C r.(?) p.(Gly258Arg)
-?/. - c.772G>C r.(?) p.(Gly258Arg)
?/. - c.785G>A r.(?) p.(Arg262Gln)
+/. 4 c.790C>T r.(?) p.(Arg264*)
+/. 4 c.790C>T r.0 p.0
+/. - c.790C>T r.(?) p.(Arg264*)
+/. - c.790C>T r.790c>u p.Arg264*
+/. - c.790C>T r.(?) p.(Arg264*)
+/. - c.790C>T r.(?) p.(Arg264Ter)
-?/. - c.833G>A r.(?) p.(Arg278His)
?/. - c.833G>A r.(?) p.(Arg278His)
-?/. - c.836+8C>T r.(=) p.(=)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66)
+/. 5 c.874_875del r.874_875del p.Leu292Valfs*66
+/. 5 c.874_875del r.874_875del p.Leu292Valfs*66
-/. - c.880A>G r.(?) p.(Thr294Ala)
-/. - c.880A>G r.(?) p.(Thr294Ala)
-?/. - c.880A>G r.(?) p.(Thr294Ala)
-/. 5 c.880A>G r.(?) p.(Thr294Ala)
?/. - c.880A>G r.(?) p.(Thr294Ala)
+/. - c.890T>C r.(?) p.(Leu297Pro)
+/. - c.892G>T r.(?) p.(Glu298*)
+/. 5 c.895G>T r.(?) p.(Glu299*)
+/. - c.895G>T r.(?) p.(Glu299*)
?/. - c.899G>A r.(?) p.(Arg300His)
+/. - c.928C>G r.(?) p.(His310Asp)
+/. - c.930C>G r.930c>g p.His310Gln
+/. - c.941G>A r.914g>a p.Trp314*
-/. - c.973-4G>A r.spl? p.?
+/. - c.979T>C r.(?) p.(Cys327Arg)
+?/. - c.992G>A r.(?) p.(Arg331Gln)
+/. - c.992G>A r.992g>a p.Arg331Gln
-?/. - c.*6271A>G r.(=) p.(=)
-?/. - c.*17433C>T r.(=) p.(=)
-?/. - c.*17496G>A r.(=) p.(=)
Legend   How to query