Transcript #00022269

Transcript name transcript variant 3
Gene name UBE3B (ubiquitin protein ligase E3B)
Chromosome 12
Transcript - NCBI ID NM_183415.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_904324.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-128+360C>G r.(=) p.(=)
-/. - c.447+5C>A r.spl? p.?
?/. - c.447+5_447+12del r.spl? p.?
-/. - c.447+11_447+28dup r.(=) p.(=)
?/. - c.447+15_447+28dup r.(=) p.(=)
-?/. - c.447+19_447+28dup r.(=) p.(=)
-?/. - c.447+21_447+28del r.(=) p.(=)
?/. - c.730C>T r.(?) p.(Gln244Ter)
+?/. - c.730C>T r.(?) p.(Gln244Ter)
?/. - c.730C>T r.(?) p.(Gln244Ter)
-?/. - c.1017C>G r.(?) p.(Thr339=)
-/. - c.1037G>A r.(?) p.(Arg346Gln)
?/. - c.1156C>G r.(?) p.(Gln386Glu)
-?/. - c.1410G>A r.(?) p.(Ser470=)
?/. - c.1609C>T r.(?) p.(Arg537Trp)
-?/. - c.2085C>T r.(?) p.(Tyr695=)
+?/. - c.2223_2224del r.(?) p.(Arg741SerfsTer3)
-?/. - c.2428A>G r.(?) p.(Ser810Gly)
-?/. - c.2725C>T r.(?) p.(Pro909Ser)
?/. - c.3065G>A r.(?) p.(Arg1022His)
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