Transcript #00000308 (NM_001039590.2, USP9X gene)

Transcript name transcript variant 3
Gene name USP9X (ubiquitin specific peptidase 9, X-linked)
Chromosome X
Transcript - NCBI ID NM_001039590.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001034679.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-208G>A r.(?) p.(=)
?/. - c.82C>T r.(?) p.(Leu28Phe)
+/. - c.82dup r.(?) p.(Leu28ProfsTer10)
?/. - c.96+233T>C r.(=) p.(=)
?/. - c.97A>G r.(?) p.(Thr33Ala)
?/. - c.131C>T r.(?) p.(Pro44Leu)
?/. - c.304A>G r.(?) p.(Ile102Val)
?/. - c.436-237T>A r.(=) p.(=)
?/. - c.436-237T>A r.(=) p.(=)
?/. - c.654+38A>G r.(=) p.(=)
?/. - c.654+38A>G r.(=) p.(=)
?/. - c.727A>G r.(?) p.(Asn243Asp)
?/. - c.1023A>G r.(?) p.(Arg341=)
?/. - c.1055T>C r.(?) p.(Met352Thr)
?/. - c.1081G>C r.(?) p.(Val361Leu)
?/. - c.1161+193A>G r.(=) p.(=)
-?/. - c.1309G>A r.(?) p.(Ala437Thr)
?/. - c.1549A>C r.(?) p.(Ser517Arg)
?/. - c.1626+112C>T r.(=) p.(=)
?/. - c.1626+112C>T r.(=) p.(=)
?/. - c.1627-136T>C r.(=) p.(=)
?/. - c.1627-136T>C r.(=) p.(=)
+/. - c.1652G>A r.(?) p.(Trp551Ter)
-?/. - c.1704C>T r.(?) p.(Pro568=)
?/. - c.1764-170del r.(=) p.(=)
?/. - c.1764-99G>T r.(=) p.(=)
?/. - c.1764-99G>T r.(=) p.(=)
?/. - c.1826A>G r.(?) p.(Asn609Ser)
+/. - c.1840_1843del r.(?) p.(Thr614TrpfsTer2)
-?/. - c.1879A>T r.(?) p.(Met627Leu)
?/. 14i c.1897+280A>C r.(?) p.(=)
?/. 14i c.1897+280A>C r.(?) p.(=)
?/. - c.1897+340T>G r.(=) p.(=)
-?/. - c.1920A>C r.(?) p.(Gln640His)
?/. - c.1920A>C r.(?) p.(Gln640His)
-?/. - c.2004T>A r.(?) p.(Gly668=)
?/? 16 c.2004T>A r.(?) p.(=)
+/. - c.2144_2155delinsGTCTGGA r.(?) p.(Ile715Serfs*5)
?/. - c.2620A>G r.(?) p.(Ile874Val)
?/. - c.2750G>A r.(?) p.(Arg917Gln)
-?/. - c.3028-7A>G r.(=) p.(=)
-?/. - c.3039G>C r.(?) p.(Leu1013=)
-?/. - c.3184T>G r.(?) p.(Leu1062Val)
?/. - c.3268T>C r.(?) p.(Tyr1090His)
-?/. - c.3390A>C r.(?) p.(Leu1130=)
-?/. - c.3422T>C r.(?) p.(Met1141Thr)
?/. - c.3422T>C r.(?) p.(Met1141Thr)
-?/. - c.3422T>C r.(?) p.(Met1141Thr)
-/. - c.3558+16T>C r.(=) p.(=)
?/. - c.3558+16T>C r.(=) p.(=)
?/. - c.3558+16T>C r.(=) p.(=)
?/? 24 c.3630C>T r.(?) p.(=)
?/. - c.3650dup r.(?) p.(Ser1218ValfsTer10)
-?/. - c.3658C>T r.(?) p.(Arg1220Cys)
?/. - c.3684+200_3684+202dup r.(=) p.(=)
?/. - c.3684+201_3684+202dup r.(=) p.(=)
?/. - c.3684+201_3684+202dup r.(=) p.(=)
?/. - c.3684+202dup r.(=) p.(=)
?/. - c.3684+202dup r.(=) p.(=)
?/. - c.3684+202dup r.(=) p.(=)
?/. - c.3684+202dup r.(=) p.(=)
+/. - c.3727C>T r.(?) p.(Gln1243Ter)
?/. - c.3803A>G r.(?) p.(Tyr1268Cys)
?/. - c.3815A>G r.(?) p.(Asn1272Ser)
?/. - c.3878C>T r.(?) p.(Thr1293Ile)
?/. - c.3930_3931insTTTTCT r.(?) p.(Lys1310_Ala1311insPheSer)
?/. - c.3977+178T>C r.(=) p.(=)
?/. - c.4156G>A r.(?) p.(Ala1386Thr)
?/. - c.4234-214A>G r.(=) p.(=)
?/. - c.4234-8T>C r.(=) p.(=)
-?/. - c.4599A>T r.(?) p.(Ile1533=)
-?/. - c.4668C>T r.(?) p.(Phe1556=)
?/. - c.4707T>A r.(?) p.(Asn1569Lys)
?/. - c.4762A>G r.(?) p.(Ile1588Val)
?/? 31 c.4812G>A r.(?) p.(=)
-?/. - c.4824+8T>A r.(=) p.(=)
?/. - c.4829A>G r.(?) p.(Asn1610Ser)
+/. - c.4983C>G r.(?) p.(Tyr1661Ter)
?/. - c.5016-93G>A r.(=) p.(=)
?/. - c.5016-93G>A r.(=) p.(=)
?/. - c.5189+78dup r.(=) p.(=)
-?/. 33i c.5189+78dup r.(?) p.(=)
?/. - c.5189+78dup r.(=) p.(=)
-?/. 33i c.5189+78dup r.(?) p.(=)
-?/. - c.5340C>T r.(?) p.(Thr1780=)
-?/. - c.5374G>A r.(?) p.(Val1792Ile)
-?/. - c.5403C>T r.(?) p.(Asp1801=)
?/? 35 c.5736T>C r.(?) p.(=)
-?/. - c.5814A>T r.(?) p.(Ser1938=)
-?/. - c.5872A>G r.(?) p.(Thr1958Ala)
-?/. - c.5920A>G r.(?) p.(Ile1974Val)
-?/. - c.6084C>T r.(?) p.(Pro2028=)
-?/. - c.6084C>T r.(?) p.(Pro2028=)
?/. - c.6085G>A r.(?) p.(Gly2029Arg)
+?/. - c.6194del r.(?) p.(Gly2065Alafs*48)
-?/. - c.6209+6T>G r.(=) p.(=)
-?/. - c.6209+6T>G r.(=) p.(=)
?/. - c.6254G>A r.(?) p.(Arg2085His)
+?/. 37 c.6278T>A r.(?) p.(Leu2093His)
-?/. - c.6435+10C>T r.(=) p.(=)
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