Transcript #00008236 (NM_012193.3, FZD4 gene)

Transcript name frizzled family receptor 4
Gene name FZD4 (frizzled family receptor 4)
Chromosome 11
Transcript - NCBI ID NM_012193.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036325.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.? r.(?) p.(Leu443Met)
+?/. - c.? r.0 p.0
-?/. - c.-12C>A r.(?) p.(=)
+/. _1_1i c.-313_(285+1_286-1)[0] r.0? p.0?
+/. - c.40_49del r.(?) p.(Pro14Serfs*44)
+/. - c.40_49del r.(?) p.(Pro14Serfs*44)
+/. - c.40_49del r.(?) p.(Pro14SerfsTer44)
?/. - c.47G>A r.(?) p.(Gly16Asp)
-/. - c.48C>T r.(?) p.(Gly16=)
+/. 1 c.97C>T r.(?) p.(Pro33Ser)
+/. - c.97C>T r.(?) p.(Pro33Ser)
-/. - c.97C>T r.(?) p.(Pro33Ser)
+/. 1 c.107G>A r.(?) p.(Gly36Asp)
+/. 1 c.107G>A r.(?) p.(Gly36Asp)
?/. - c.118G>C r.(?) p.(Glu40Gln)
+/. 1 c.118G>C r.(?) p.(Glu40Gln)
?/. - c.118G>C r.(?) p.(Glu40Gln)
+/. 1 c.133T>A r.(?) p.(Cys45Ser)
+/. 1 c.133T>C r.(?) p.(Cys45Arg)
+/. 1 c.134G>A r.(?) p.(Cys45Tyr)
+/. 1 c.158G>C r.(?) p.(Cys53Ser)
+?/. - c.160C>T r.(?) p.(Gln54Ter)
?/. - c.177C>A r.(?) p.(Asn59Lys)
-?/. - c.205C>T r.(?) p.(His69Tyr)
+/. 1 c.205C>T r.(?) p.(His69Tyr)
+/. 1 c.223G>A r.(?) p.(Ala75Thr)
+/. 1 c.244_251delinsGCAGCTCATCCAGTACGCCGAGCTGCA r.(?) p.(Phe82Alafs*54)
+/. 1 c.268T>C r.(?) p.(Cys90Arg)
+/. - c.277C>T r.(?) p.(Gln93Ter)
-?/. - c.285+18_285+23dup r.(=) p.(=)
+/. - c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+/. 2 c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+/. 2 c.313A>G r.(?) p.(Met105Val)
+/. 2 c.313A>G r.(?) p.(Met105Val)
+/. - c.313A>G r.(?) p.(Met105Val)
+?/. - c.313A>G r.(?) p.(Met105Val)
+/. - c.313A>G r.(?) p.(Met105Val)
+/. - c.313A>G r.(?) p.(Met105Val)
+/. 2 c.313A>G r.(?) p.(Met105Val)
?/. - c.313A>G r.(?) p.(Met105Val)
+/. - c.313A>G r.(?) p.(Met105Val)
+/. 2 c.314T>C r.(?) p.(Met105Thr)
+/. 2 c.341T>C r.(?) p.(Ile114Thr)
+/. 2 c.341T>G r.(?) p.(Ile114Ser)
+/. - c.349T>C r.(?) p.(Cys117Arg)
+/. - c.349T>C r.(?) p.(Cys117Arg)
+/. - c.349T>C r.(?) p.(Cys117Arg)
+?/. - c.349T>C r.(?) p.(Cys117Arg)
+?/. - c.349T>C r.(?) p.(Cys117Arg)
?/. - c.356G>T r.(?) p.(Gly119Val)
+/. - c.400G>T r.(?) p.(Glu134*)
+?/. - c.456C>G r.(?) p.(Asn152Lys)
+/. 2 c.469A>G r.(?) p.(Met157Val)
+/. 2 c.470T>C r.(?) p.(Met157Thr)
+?/. - c.470T>C r.(?) p.(Met157Thr)
+?/. - c.470T>C r.(?) p.(Met157Thr)
-/. - c.502C>T r.(?) p.(Pro168Ser)
-?/. - c.502C>T r.(?) p.(Pro168Ser)
-?/. - c.502C>T r.(?) p.(Pro168Ser)
+/. 2 c.502C>T r.(?) p.(Pro168Ser)
+?/. - c.539_540del r.(?) p.(Glu180ValfsTer9)
+/. 2 c.541T>C r.(?) p.(Cys181Arg)
+/. 2 c.541T>C r.(?) p.(Cys181Arg)
+/. - c.542G>A r.(?) p.(Cys181Tyr)
+/. 2 c.609G>C r.(?) p.(Lys203Asn)
+/. 2 c.610T>C r.(?) p.(Cys204Arg)
+/. 2 c.611G>A r.(?) p.(Cys204Tyr)
+/. - c.611G>A r.(?) p.(Cys204Tyr)
+?/. - c.611G>T r.(?) p.(Cys204Phe)
-?/. - c.653_676dup r.(?) p.(Phe218_Val225dup)
+?/. - c.664T>C r.(?) p.(Trp222Arg)
+/. 2 c.668T>A r.(?) p.(Met223Lys)
+?/. - c.676T>A r.(?) p.(Trp226Arg)
-?/. - c.729C>T r.(?) p.(Ile243=)
+/. - c.749A>G r.(?) p.(Tyr250Cys)
+/. - c.749A>G r.(?) p.(Tyr250Cys)
?/. - c.757C>T r.(?) p.(Arg253Cys)
?/. - c.766A>G r.(?) p.(Ile256Val)
+?/. - c.766A>G r.(?) p.(Ile256Val)
+/. - c.766A>G r.(?) p.(Ile256Val)
+/. - c.766A>G r.(?) p.(Ile256Val)
+/. 2 c.766A>G r.(?) p.(Ile256Val)
+?/. - c.818T>G r.(?) p.(Leu273Arg)
+/. 2 c.856G>T r.(?) p.(Glu286*)
+/. - c.856G>T r.(?) p.(Glu286Ter)
+/. - c.905G>A r.(?) p.(Cys302Tyr)
+/. - c.905G>A r.(?) p.(Cys302Tyr)
-/. - c.945C>T r.(?) p.(Ala315=)
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5)
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5)
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5)
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5)
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5)
+/. - c.957G>A r.(?) p.(Trp319Ter)
+/. - c.957G>A r.(?) p.(Trp319*)
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