Transcript #00023900 (NM_203475.1, PORCN gene)

Transcript name transcript variant D
Gene name PORCN (porcupine homolog (Drosophila))
Chromosome X
Transcript - NCBI ID NM_203475.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_982301.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 c.-669C>T r.(=) p.(=)
?/. _1 c.-669C>T r.(=) p.(=)
?/. _1 c.-474T>C r.(=) p.(=)
?/. _1 c.-474T>C r.(=) p.(=)
?/. _1 c.-468C>T r.(=) p.(=)
?/. _1 c.-468C>T r.(=) p.(=)
+/+ _1_8i c.-37_(845+1_846-1)del r.0? p.0?
+/+ _1_8i c.-37_(845+1_846-1)del r.0? p.0?
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+?/+? _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.0 p.0
+/+ _1_14_ c.0 r.? p.?
+/+ _1_14_ c.0 r.0 p.0
+/+ 2 c.1A>G r.(?) p.0?
+/+ 2 c.3G>A r.(?) p.0?
+/+ _1_3i c.26_373+155del r.0? p.0?
+/+ 2 c.49dup r.(?) p.(Cys17Leufs*11)
+/+ 2 c.53dup r.(?) p.(Leu19Profs*9)
+/+ 2 c.67C>T r.(?) p.Gln23*
+/+ 2 c.74del r.(?) p.(Gly25Alafs*27)
+/+ 2 c.107G>A r.(?) pCys36Tyr
+/+ 2 c.108C>A r.(?) p.(Cys36*)
+?/. - c.115T>C r.(?) p.(Cys39Arg)
+/+ 2 c.129G>A r.(?) p.(Trp43*)
+?/+? 2 c.129G>A r.(?) p.(Trp43*)
+/+ 2i c.136+1G>A r.spl p.?
+/+ 2i c.136+2del r.spl p.?
+/+ 2 c.136+2del r.spl p.(?)
+/+ intron 2 c.136+2T>C r.spl p.?
-?/. - c.137-4A>T r.spl? p.?
-/- i2 c.137-4A>T r.(?) p.?
+?/+? 2i c.137-3A>G r.spl? p.?
+/+ Intron 2 c.137-3A>G r.(?) p.?
+/+ 3 c.166_167dup r.(?) p.(Val57Profs*60)
+/+ 3 c.166_167dup r.(?) p.(Val57Profs*60)
+/+ - c.173_178delinsACT r.(?) p.Ala58_Gly60delins
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+?/. - c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.(Gly60Arg)
+?/. - c.178G>A r.(?) p.(Gly60Arg)
+/+ 3 c.178G>A r.(?) p.Gly60Arg
+/. 3 c.205C>T r.(?) p.(Gln69*)
-?/. - c.209T>G r.(?) p.(Leu70Arg)
+/+ 3 c.221G>A r.(?) p.(Trp74*)
+/+ 3 c.222G>A r.(?) p.(Trp74*)
+/+ 3 c.268C>T r.(?) p.(Arg90*)
+/+ 3 c.268C>T r.(?) p.(Arg90*)
+/+ 3 c.268C>T r.(?) p.(Arg90*)
+?/+? 3 c.268C>T r.(?) p.(Arg90*)
+/+ 3 c.283C>T r.(?) p.(Arg95*)
+/+ 3 c.283C>T r.(?) p.(Arg95*)
+/+ 3 c.283C>T r.(?) p.(Arg95*)
-?/. - c.289G>A r.(?) p.(Val97Ile)
-?/. - c.329+9A>G r.(=) p.(=)
-?/-? 3i c.330-27del r.(?) p.(=)
-?/-? 3i c.330-11T>A r.(?) p.(=)
?/. - c.340A>G r.(?) p.(Met114Val)
?/. - c.343G>A r.(?) p.(Val115Ile)
+/+ 4 c.360G>A r.(?) p.(Trp120*)
?/+? - c.368T>G r.(?) p.(Met123Arg)
+/+ 4 c.370C>T r.(?) p.(Arg124*)
+/+ 4 c.370C>T r.(?) p.(Arg124*)
+/+ 4 c.370C>T r.(?) p.(Arg124*)
+/+ 4 c.370C>T r.(?) p.(Arg124*)
+/+ 4 c.370C>T r.(?) p.(Arg124*)
+/+? 4 c.373G>A r.spl? p.(Gly125Arg)
+/+ 4i c.373+1G>A r.spl p.?
?/. 3i c.373+150G>A r.(=) p.(=)
?/. 3i c.373+150G>A r.(=) p.(=)
+/+ 4i c.374-46T>A r.spl p.(=)
+/? 4i c.374-15T>A r.spl p.?
+?/+? 4i c.374-15T>A r.spl p.?
+/+ 4i c.374-1G>A r.spl p.?
+/+ 5 c.387del r.[373_374ins374-13_374-1,387del] p.Ala126_Ile129delinsTTHRGTDD
+/+ 5 c.407C>T r.(?) p.(Ser136Phe)
-?/. - c.443C>T r.(?) p.(Thr148Met)
?/. - c.446T>A r.(?) p.(Val149Glu)
-?/. - c.453G>A r.(?) p.(Ser151=)
+?/? 4 c.470G>A r.(?) p.(Gly157Asp)
+?/? 4 c.470G>A r.(?) p.(Gly157Asp)
+?/? 4 c.470G>A r.(?) p.(Gly157Asp)
+?/? 4 c.470G>A r.(?) p.(Gly157Asp)
+?/? 4 c.470G>A r.(?) p.(Gly157Asp)
+/+ 5 c.479dup r.(?) p.(Tyr160*)
+?/. - c.484dup r.(?) p.(Val162GlyfsTer63)
+?/. 5 c.487G>A r.(?) p.(Gly163Ser)
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