Transcript #00015988 (NM_000288.3, PEX7 gene)

Transcript name peroxisomal biogenesis factor 7
Gene name PEX7 (peroxisomal biogenesis factor 7)
Chromosome 6
Transcript - NCBI ID NM_000288.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000279.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

269 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.-95T>C r.(?) p.?
+/. 1 c.-45C>T r.(?) p.0?
?/. - c.2T>G r.(?) p.(Met1?)
+/. 1 c.13_19dup r.(?) p.(Gly7Valfs*51)
+/. 1 c.40A>C r.(?) p.(Thr14Pro)
+/. 1 c.45_52del r.(?) p.(Gly16Argfs*37)
+/. 1 c.45_52dup r.(?) p.(His18Argfs*35)
+/. 1 c.45_52dup r.(?) p.(His18Argfs*35)
+/. - c.60C>A r.(?) p.(Tyr20*)
+/. 1 c.64_65del r.(?) p.(Ala22Argfs*33)
+/. 1 c.64_65del r.(?) p.(Ala22Argfs*33)
+/. 1 c.74C>T r.(?) p.(Ser25Phe)
?/. - c.107C>T r.(?) p.(Thr36Ile)
+/. 1 c.116A>C r.(?) p.(His39Pro)
?/. - c.119A>G r.(?) p.(Tyr40Cys)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.120C>G r.(?) p.(Tyr40*)
+/. 1 c.122G>T r.(?) p.(Gly41Val)
+/. 1i c.130+1G>A r.spl p.?
+/. 1i c.130+1G>A r.spl p.?
+/. 1i c.130+1G>A r.spl p.?
+/. - c.130+1G>C r.spl p.?
+/. - c.130+3G>C r.spl p.?
-?/. - c.131-5T>G r.spl? p.?
+/. - c.131-1G>A r.spl? p.?
+/. 2i c.188+1G>A r.spl p.?
+/. 2i c.188+1G>A r.spl p.?
+/. 2i c.188+1G>A r.spl p.?
+/. 2i c.188+1G>C r.spl p.?
+/. 2i c.188+1G>C r.spl p.?
+/. - c.195_196del r.(?) p.(Asp65Glufs*3)
+/. - c.198G>A r.(?) p.(Trp66Ter)
+/. - c.209T>G r.(?) p.(Leu70Trp)
?/. - c.214G>A r.(?) p.(Asp72Asn)
+/. - c.257G>A r.(?) p.(Cys86Tyr)
+/. - c.257G>A r.(?) p.(Cys86Tyr)
+/. 3 c.257G>T r.(?) p.(Cys86Phe)
+/. - c.283T>G r.(?) p.(Trp95Gly)
-?/. - c.313C>A r.(?) p.(Gln105Lys)
-?/. - c.315A>G r.(?) p.(Gln105=)
?/. - c.316G>C r.(?) p.(Val106Leu)
+/. 3 c.329A>G r.(?) p.(His110Arg)
+/. 3 c.329A>G r.(?) p.(His110Arg)
-?/. - c.330C>T r.(?) p.(His110=)
+/. 3 c.334C>T r.(?) p.(Gln112*)
+/. 3i c.340-10A>G r.339_340ins340-9_340-1 p.?
+/. 3i c.340-10A>G r.339_340ins340-9_340-1 p.?
+/. - c.345T>G r.(?) p.(Tyr115*)
+/. 4 c.345T>G r.(?) p.(Tyr115*)
+/. 4 c.347G>T r.(?) p.(Ser116Ile)
+/. 4 c.370_396del r.(?) p.(Gly124_Ser132del)
+/. 4 c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.370_396del r.(?) p.(Gly124_Ser132del)
+/. - c.376C>T r.(?) p.(Gln126*)
-?/. - c.377A>C r.(?) p.(Gln126Pro)
-/. - c.377A>C r.(?) p.(Gln126Pro)
-?/. - c.377A>C r.(?) p.(Gln126Pro)
+/. 4 c.395C>A r.(?) p.(Ser132*)
+/. - c.400G>A r.(?) p.(Asp134Asn)
+/. 5 c.427del r.(?) p.(Thr143Leufs*38)
+/. 9 c.429del r.(?) p.(Val144Leufs*37)
+/. 5 c.454A>T r.(?) p.(Arg152*)
+/. 5 c.490T>C r.(?) p.(Ser164Pro)
+/. 5 c.509_511del r.(?) p.(Cys170del)
?/. - c.510T>G r.(?) p.(Cys170Trp)
-/. - c.526+10T>C r.(=) p.(=)
?/. - c.534G>C r.(?) p.(Gln178His)
-?/. - c.576C>T r.(?) p.(Ile192=)
-/. - c.615C>T r.(?) p.(Asp205=)
-?/. - c.615C>T r.(?) p.(Asp205=)
+/. 6 c.618G>A r.(?) p.(Trp206*)
+/. 6 c.618G>A r.(?) p.(Trp206*)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.649G>A r.(?) p.(Gly217Arg)
+/. - c.649G>A r.(?) p.(Gly217Arg)
+/. 7 c.653C>T r.(?) p.(Ala218Val)
+/. 7 c.653C>T r.(?) p.(Ala218Val)
+/. 7 c.653C>T r.(?) p.(Ala218Val)
+/. 7 c.653C>T r.(?) p.(Ala218Val)
+/. 7 c.653C>T r.(?) p.(Ala218Val)
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