Transcript #00015987

Transcript name peroxisomal biogenesis factor 6
Gene name PEX6 (peroxisomal biogenesis factor 6)
Chromosome 6
Transcript - NCBI ID NM_000287.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000278.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

157 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.25C>T r.(?) p.(Leu9=)
+/+ 1 c.35T>C r.(?) p.(Phe12Ser)
+/+ 1 c.115_120del r.(?) p.(Ala39_Leu40del)
+/+ 1 c.170T>C r.(?) p.(Leu57Pro)
+/+ 1 c.224dup r.(?) p.(Val76Glyfs*2)
+/+ 1 c.275_280del r.(?) p.(Val92_Arg93del)
+/+ 1 c.277C>G r.(?) p.(Arg93Gly)
+/+ 1 c.281C>A r.(?) p.(Ala94Glu)
?/. - c.302C>G r.(?) p.(Pro101Arg)
?/. - c.302C>T r.(?) p.(Pro101Leu)
+/+ 1 c.311del r.(?) p.(Gly104Valfs*22)
-/. - c.399G>T r.(?) p.(Val133=)
+/+ 1 c.402del r.(?) p.(Gly135Aspfs*23)
-?/. - c.407C>A r.(?) p.(Pro136Gln)
+?/+? 1 c.488G>C r.(?) p.(Arg163Pro)
+/+ 1 c.510dup r.(?) p.(Gly171Trpfs*71)
+/+ 1 c.517del r.(?) p.(Ser173Alafs*33)
+/+ 1 c.530del r.(?) p.(Pro177Hisfs*29)
-?/. - c.531A>C r.(?) p.(Pro177=)
-?/. - c.531A>C r.(?) p.(Pro177=)
+/+ 1 c.557C>A r.(?) p.(Ala186Glu)
+/+ 1 c.611C>G r.(?) p.(Ser204*)
+/+ 1 c.656A>C r.(?) p.(Gln219Pro)
+/+ 1 c.656del r.(?) p.(Gln219Argfs*27)
+/+ 1 c.659G>T r.(?) p.(Gly220Val)
+?/+? 1 c.661G>T r.(?) p.(Glu221*)
+?/. - c.661G>T r.(?) p.(Glu221Ter)
?/. - c.685A>G r.(?) p.(Arg229Gly)
+/+ 1 c.689_690del r.(?) p.(Glu230Valfs*11)
+/+ 1 c.689_690dup r.(?) p.(Ser232Hisfs*15)
+/+ 1 c.689_690insAG r.(?) p.(Ser231Glyfs*16)
+/+ 1 c.691_692insAG r.(?) p.(Ser231*)
+/+ 1 c.727C>T r.(?) p.(Gln243*)
+/+ 1 c.802_815del r.(?) p.(Asp268Cysfs*8)
-/. - c.813G>T r.(?) p.(Ala271=)
+/. - c.814_817dup r.(?) p.(Val273AlafsTer9)
+/+ 1 c.814_817dup r.(?) p.(Val273Alafs*9)
+/. 5 c.821C>T r.(?) p.(Pro274Leu)
+/. 5 c.821C>T r.(?) p.(Pro274Leu)
+/. 5 c.821C>T r.(?) p.Pro274Leu
+/+ 1 c.821C>T r.(?) p.(Pro274Leu)
-?/. - c.853C>G r.(?) p.(Pro285Ala)
?/. - c.853C>G r.(?) p.(Pro285Ala)
+/+ 1 c.856del r.(?) p.(Leu286Trpfs*65)
+/+ 1 c.867del r.(?) p.(Glu290Serfs*61)
+/+ 1i c.882+1G>A r.spl? p.?
-/. - c.883-3T>C r.spl? p.?
+/+ 1i c.883-2A>G r.spl? p.?
-?/. - c.903C>T r.(?) p.(Ile301=)
+/+ 2 c.914del r.(?) p.(Asp305Alafs*46)
-?/. - c.925T>G r.(?) p.(Cys309Gly)
-?/. - c.988C>T r.(?) p.(His330Tyr)
+/. - c.1027del r.(?) p.(Arg343GlyfsTer8)
+/+ 2i c.1047-2A>G r.spl? p.?
+/+ 2i c.1047-1G>A r.spl? p.?
+/+ 3 c.1054C>T r.(?) p.(Gln352*)
+/+ 3i c.1130+1G>A r.spl? p.?
+/+ 3i c.1131-1G>C r.spl? p.?
?/. - c.1171G>A r.(?) p.(Glu391Lys)
+/+ 4 c.1198T>A r.(?) p.(Tyr400Asn)
+?/. 5 c.1238G>T r.(?) p.(Gly413Val)
+/+ 5 c.1301del r.(?) p.(Ser434Phefs*16)
+/+ 5 c.1314_1321del r.(?) p.(Glu439Glyfs*3)
+/. - c.1338_1339del r.(?) p.(Ala447Cysfs*17)
+/+ 5 c.1338_1339del r.(?) p.(Ala447Cysfs*17)
+/+ 5 c.1367+1del r.spl? p.(Gly457ValfsTer4)
+/+ 6 c.1404del r.(?) p.(Arg469Glyfs*11)
+/+ 6 c.1415dup r.(?) p.(Gly473Argfs*13)
-/. - c.1480-5C>T r.spl? p.?
+/+ 7 c.1495del r.(?) p.(Leu499Serfs*49)
-?/. - c.1509T>C r.(?) p.(Ser503=)
+/+ 7 c.1532T>G r.(?) p.(Leu511Arg)
+/+ 7 c.1553C>A r.(?) p.(Ala518Asp)
?/. - c.1565G>C r.(?) p.(Arg522Pro)
+/+ 7 c.1601T>C r.(?) p.(Leu534Pro)
?/. - c.1646C>T r.(?) p.(Ala549Val)
-/. - c.1646C>T r.(?) p.(Ala549Val)
-?/. - c.1680C>T r.(?) p.(Pro560=)
+/+ 7i c.1688+1G>A r.spl? p.?
+/+ 7i c.1689-1G>T r.spl? p.?
?/. - c.1706T>C r.(?) p.(Val569Ala)
+/+ 8 c.1711G>A r.(?) p.(Ala571Thr)
+/+ 8 c.1715C>T r.(?) p.(Thr572Ile)
?/. - c.1718C>T r.(?) p.(Thr573Ile)
?/. - c.1718C>T r.(?) p.(Thr573Ile)
+?/+? 8 c.1718C>T r.(?) p.(Thr573Ile)
+/+ 8 c.1793_1794del r.(?) p.(Glu598Glyfs*63)
+/+ 8 c.1801C>T r.(?) p.(Arg601Trp)
+/. 10 c.1802G>A r.(?) p.(Arg601Gln)
+/. 10 c.1802G>A r.(?) p.(Arg601Gln)
+/. 10 c.1802G>A r.(?) p.Arg601Gln
+/+ 8 c.1802G>A r.(?) p.(Arg601Gln)
+/. - c.1802G>A r.(?) p.(Arg601Gln)
+/+ 8 c.1814T>G r.(?) p.(Leu605Arg)
+/. 11 c.1841del r.(?) p.(Leu614Argfs*5)
+/. 11 c.1841del r.(?) p.(Leu614Argfs*5)
+/. 11 c.1841del r.(?) p.Leu614Argfs*5
+/+ 8 c.1841del r.(?) p.(Leu614Argfs*5)
+/. 12 c.1930C>T r.(?) p.(Arg644Trp)
+/. 12 c.1930C>T r.(?) p.(Arg644Trp)
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