Transcript #00015982 (NM_000466.2, PEX1 gene)

Transcript name peroxisomal biogenesis factor 1
Gene name PEX1 (peroxisomal biogenesis factor 1)
Chromosome 7
Transcript - NCBI ID NM_000466.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000457.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

609 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 21 c.3378C>R r.(?) p.(Tyr1126*)
+/. 12 c.? r.634_690del p.?
-/. - c.-53C>G r.(?) p.(=)
?/. 1 c.-53C>G r.(?) p.?
?/. 24_ - r.(?) p.(=)
?/. 24_ - r.(?) p.(=)
?/. _1 - r.(?) p.(=)
+/. 13 c.(2226+1_2417-1)? r.2227_2416del p.?
+/. 13 c.(2226+1_2417-1)? r.2227_2416del p.?
+/. 1 c.2T>C r.(?) p.0?
+/. 1 c.2T>C r.(?) p.0?
+/. 1 c.2T>C r.(?) p.0?
+/. 1 c.3G>A r.(?) p.0?
+/+ 1 c.3G>A r.(?) p.(Met1?)
+/. 1 c.5G>A r.(?) p.(Trp2*)
+/. 1 c.56_57del r.(?) p.(Val19Glyfs*48)
+/. 1 c.56_57del r.(?) p.(Val19Glyfs*48)
+/+ 1 c.95_97del r.(?) p.(Pro32del)
-?/. - c.129+21C>T r.(=) p.(=)
+/. 2 c.130-2A>T r.spl p.?
+/+ 1i c.130-2A>T r.spl? p.?
-?/. - c.147G>A r.(?) p.(Val49=)
?/. - c.223G>A r.(?) p.(Glu75Lys)
+/+ 2 c.249_250insT r.(?) p.(Leu84Serfs*24)
+/. 2 c.270del r.(?) p.(Gln91Argfs*41)
+/. 2 c.270del r.(?) p.(Gln91Argfs*41)
+/. i2 c.273+1G>A r.spl p.?
+/+ 2i c.273+1G>A r.spl? p.?
+/+ 2i c.274-1G>C r.spl? p.?
+/+ 3 c.274G>C r.(?) p.(Val92Leu)
+?/. - c.274G>C r.(?) p.(Val92Leu)
-/. - c.330C>G r.(?) p.(Pro110=)
-?/. - c.330C>G r.(?) p.(Pro110=)
-/- 3 c.330C>G r.(=) p.(=)
+/. 3 c.343_344insCT r.(?) p.(Asp115Alafs*18)
-/. - c.358-15G>A r.(=) p.(=)
-/. - c.358-15G>A r.(=) p.(=)
-/. - c.358-15G>A r.(=) p.(=)
-/. - c.358-11G>C r.(=) p.(=)
+?/+? 4 c.382C>A r.(?) p.(Gln128Lys)
-?/. - c.400A>G r.(?) p.(Ile134Val)
+/. - c.403C>T r.(?) p.(Arg135Ter)
?/. - c.412T>C r.(?) p.(Phe138Leu)
+/. 4 c.434_448delinsGCAA r.(?) p.(Val145Glyfs*24)
-?/. - c.453G>A r.(?) p.(Thr151=)
?/. - c.455A>G r.(?) p.(Tyr152Cys)
?/. - c.457A>C r.(?) p.(Ile153Leu)
-?/. - c.468A>G r.(?) p.(Gln156=)
-/. - c.473-18G>A r.(=) p.(=)
-?/. - c.473-3C>T r.spl? p.?
-/. - c.473-3C>T r.spl? p.?
-/. - c.473-3C>T r.spl? p.?
+/. 4 c.473-1G>A r.spl p.?
+/+ 4i c.473-1G>A r.spl? p.?
+/. 4i c.473-1G>A r.spl p.?
+/+ 5 c.475G>C r.(?) p.(Ala159Pro)
+/. 5 c.547C>T r.(?) p.(Arg183*)
+/. 5 c.547C>T r.(?) p.(Arg183*)
+/+ 5 c.547C>T r.(?) p.(Arg183*)
+/. - c.547C>T r.(?) p.(Arg183*)
+/. 5 c.547C>T r.(?) p.(Arg183*)
+/. 5 c.569C>A r.(?) p.(Ser190*)
+/. 5 c.569C>A r.(?) p.(Ser190*)
+/. 5 c.569C>A r.(?) p.(Ser190*)
+/. 5 c.569C>A r.(?) p.(Ser190*)
+/+ 5 c.569C>A r.(?) p.(Ser190*)
?/. - c.574G>A r.(?) p.(Ala192Thr)
+/. 5 c.616C>T r.(?) p.(Gln206*)
+/+ 5 c.616C>T r.(?) p.(Gln206*)
?/. - c.627G>A r.(?) p.(Met209Ile)
?/. - c.627G>A r.(?) p.(Met209Ile)
-/. - c.637C>T r.(?) p.(Leu213Phe)
-?/. - c.637C>T r.(?) p.(Leu213Phe)
-?/. - c.637C>T r.(?) p.(Leu213Phe)
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11)
+/+ 5 c.643_647del r.(?) p.(Thr215Alafs*11)
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11)
-?/. - c.645C>G r.(?) p.(Thr215=)
+?/+? 5 c.657_660del r.(?) p.(Ser220Ilefs*22)
?/? 5 c.674T>A r.(?) p.(Ile225Asn)
?/. - c.686A>G r.(?) p.(Asn229Ser)
+/+ 5 c.724G>A r.(?) p.(Val242Ile)
?/. - c.770C>T r.(?) p.(Ser257Phe)
+/+ 5 c.781C>T r.(?) p.(Gln261*)
+/. 5 c.781C>T r.781c>u p.Gln261*
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8)
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8)
+/. - c.782_783del r.(?) p.(Gln261Argfs*8)
+/+ 5 c.782_783del r.(?) p.(Gln261Argfs*8)
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8)
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8)
+/. 5 c.788_789del r.(?) p.(Thr263Ilefs*6)
-/. - c.812A>G r.(?) p.(Asn271Ser)
-?/. - c.812A>G r.(?) p.(Asn271Ser)
-?/. - c.897C>T r.(?) p.(Asn299=)
+/. 5 c.904del r.(?) p.(Ala302Glnfs*23)
+/+ 5 c.911_912del r.(?) p.(Ser304Cysfs*4)
-?/. - c.920A>C r.(?) p.(His307Pro)
-?/. - c.939T>C r.(?) p.(His313=)
-?/. - c.969T>C r.(?) p.(Asp323=)
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