Transcript #00020509

Transcript name STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
Gene name STUB1 (STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase)
Chromosome 16
Transcript - NCBI ID NM_005861.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005852.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-4145A>G likely benign r.(?) p.(=)
?/. - c.-3483A>C VUS r.(?) p.(=)
?/. - c.1A>G VUS r.(?) p.?
?/. - c.107T>C VUS r.(?) p.(Leu36Pro)
?/. - c.146A>G VUS r.(?) p.(Tyr49Cys)
?/. - c.146A>G VUS r.(?) p.(Tyr49Cys)
?/. - c.159+5G>A VUS r.spl? p.?
?/. - c.196C>T VUS r.(?) p.(Arg66Trp)
-?/. - c.326G>A likely benign r.(?) p.(Ser109Asn)
-?/. - c.326G>A likely benign r.(?) p.(Ser109Asn)
-?/. - c.402C>T likely benign r.(?) p.(=)
?/. - c.419G>A VUS r.(?) p.(Arg140Gln)
?/. - c.433A>C VUS r.(?) p.(Lys145Gln)
?/. - c.433A>C VUS r.(?) p.(Lys145Gln)
-?/. - c.516G>A likely benign r.(?) p.(=)
-?/. - c.577G>A likely benign r.(?) p.(Val193Ile)
?/. - c.580C>T VUS r.(?) p.(Arg194Trp)
-?/. - c.642T>C likely benign r.(?) p.(=)
+/. - c.646dup pathogenic r.(?) p.(Ser216Phefs*5)
?/. - c.722G>C VUS r.(?) p.(Arg241Pro)
-?/. - c.831G>A likely benign r.(?) p.(=)
?/. - c.841A>T VUS r.(?) p.(Ile281Phe)
?/. - c.874_875del VUS r.(?) p.(Ala292Ilefs*4)
?/. - c.*501G>A VUS r.(=) p.(=)
-?/. - c.*1764C>T likely benign r.(=) p.(=)
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