Transcript #00015987 (NM_000287.3, PEX6 gene)

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

266 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 3 c.1047-2 A>G r.(?) p.?
-/. 1 c.-55C>T r.(?) p.(=)
-/. _1 - - -
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del)
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del)
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del)
-?/. - c.25C>T r.(?) p.(Leu9=)
+/. - c.35T>C r.(?) p.(Phe12Ser)
+/+ 1 c.115_120del r.(?) p.(Ala39_Leu40del)
+/. 1 c.115_120del r.(?) p.(Ala39_Leu40del)
+/. - c.126_217del r.(?) p.(Gly44Thrfs*3)
+/. 1 c.126_217del r.(?) p.(Gly44Thrfs*3)
+/. 1 c.126_217del r.(?) p.(Gly44Thrfs*3)
+/. 1 c.170T>C r.170u>c p.Leu57Pro
-/. - c.210G>A r.(?) p.(Gly70=)
+/. 1 c.224dup r.(?) p.(Val76Glyfs*2)
-/. 1 c.235G>C r.(?) p.(Ala79Pro)
-/. - c.235G>C r.(?) p.(Ala79Pro)
+/. 1 c.275_280del r.275_280del p.Val92_Arg93del
+/. 1 c.277C>G r.(?) p.(Arg93Gly)
+/. 1 c.281C>A r.(?) p.(Ala94Glu)
+/. 1 c.283_288del r.283_288del p.Arg95_Ala96del
+/. - c.283_288del r.283_288del p.Arg95_Ala96del
?/. - c.302C>G r.(?) p.(Pro101Arg)
?/. - c.302C>T r.(?) p.(Pro101Leu)
+/. 1 c.311del r.(?) p.(Gly104Valfs*22)
+/. 1 c.311del r.(?) p.(Gly104Valfs*22)
+/. - c.311del r.(?) p.(Gly104Valfs*22)
-/. - c.330C>G r.(=) p.(=)
-/. - c.399G>T r.(?) p.(Val133=)
-/. - c.399G>T r.(?) p.(=)
-/. - c.399G>T r.(?) p.(Val133=)
-/. - c.399G>T r.(=) p.(=)
+/. 1 c.402del r.402del p.Gly135Aspfs*23
-?/. - c.407C>A r.(?) p.(Pro136Gln)
+?/+? 1 c.488G>C r.(?) p.(Arg163Pro)
+/. - c.500_501del r.(?) p.(Cys167Serfs*74)
+/. 1 c.510dup r.510dup p.Gly171Trpfs*71
+/. 1 c.517del r.(?) p.(Ser173Alafs*33)
+/. - 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_690dup r.(?) p.(Ser232Hisfs*15)
+/. 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.727c>u p.Gln243*
?/. - c.740C>G r.(?) p.(Pro247Arg)
+/. - c.802_815del r.619_882del p.Val76_Gln294del
+/. 1 c.802_815del r.(?) p.(Asp268Cysfs*8)
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8
+/+ 1 c.802_815del r.(?) p.(Asp268Cysfs*8)
-/. - c.813G>T r.(?) p.(Ala271=)
-/. - c.813G>T r.(=) p.(=)
-/. - c.813G>T r.(?) p.(Ala271=)
+/. - c.814_817dup r.(?) p.(Val273AlafsTer9)
+/. 1 c.814_817dup r.814_817dup p.Val273Alafs*9
+/. - c.821C>T r.(?) p.(Pro274Leu)
+/. 5 c.821C>T r.(?) p.(Pro274Leu)
+/. 5 c.821C>T r.(?) p.(Pro274Leu)
+/. - 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)
?/. - c.853C>G r.(?) p.(Pro285Ala)
+/. 1 c.856del r.(?) p.(Leu286Trpfs*65)
+/. 1 c.867del r.(?) p.(Glu290Serfs*61)
+/. - c.882+1G>A r.spl p.?
+/. 1i c.882+1G>A r.spl p.?
-/. - c.883-3T>C r.spl? p.?
-/. 1i c.883-3T>C r.(?) p.(-)
+/. 1i c.883-2A>G r.[883_1046del,883_884del] p.?
+/. 1i_3i c.(882+1_883-1)_(1130+1_1131-1)del r.(?) p.?
-?/. - c.903C>T r.(?) p.(Ile301=)
+/. - c.914del r.(?) p.(Asp305Alafs*46)
+/. 2 c.914del r.(?) p.(Asp305Alafs*46)
-?/. - c.925T>G r.(?) p.(Cys309Gly)
-?/. - c.988C>T r.(?) p.(His330Tyr)
+/. - c.1027del r.(?) p.(Arg343GlyfsTer8)
+/. 3 c.1027_1030dup r.(?) p.(His344Profs*42)
+/. 2i c.1047-2A>G r.spl p.?
+/. 2i c.1047-1G>A r.spl p.?
+/+ 2i c.1047-1G>A r.spl? p.?
+/. 3 c.1054C>T r.1047_1130del p.Val350_Arg377del
+/+ 3 c.1054C>T r.(?) p.(Gln352*)
+/. 3i c.1130+1G>A r.1047_1130del p.Val350_Arg377del
+/. 3i c.1131-1G>C r.spl p.?
?/. - c.1171G>A r.(?) p.(Glu391Lys)
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »