Transcript #00022287 (NM_013444.3, UBQLN2 gene)

Transcript name ubiquilin 2
Gene name UBQLN2 (ubiquilin 2)
Chromosome X
Transcript - NCBI ID NM_013444.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_038472.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.32C>G r.(?) p.(Pro11Arg)
-?/. - c.82G>C r.(?) p.(Ala28Pro)
-?/. - c.186G>A r.(?) p.(Ser62=)
-?/. - c.364A>G r.(?) p.(Asn122Asp)
-?/. - c.394A>G r.(?) p.(Asn132Asp)
-/. - c.432G>T r.(?) p.(Gly144=)
?/. - c.562A>T r.(?) p.(Asn188Tyr)
?/. - c.583C>A r.(?) p.(Leu195Ile)
-?/. - c.594C>T r.(?) p.(Pro198=)
-?/. - c.636G>A r.(?) p.(Gln212=)
-?/. - c.636G>A r.(?) p.(Gln212=)
?/. 1 c.942T>A r.(?) p.(Asp314Glu)
?/. 1 c.942T>A r.(?) p.(Asp314Glu)
?/. 1 c.942T>A r.(?) p.(Asp314Glu)
-?/. - c.970C>T r.(?) p.(Pro324Ser)
+/. - c.1019G>T r.(?) p.(Ser340Ile)
+/. - c.1019G>T r.(?) p.(Ser340Ile)
+/. - c.1019G>T r.(?) p.(Ser340Ile)
+/. - c.1019G>T r.(?) p.(Ser340Ile)
?/. - c.1019G>T r.(?) p.(Ser340Ile)
-?/. - c.1173C>T r.(?) p.(Tyr391=)
+/. - c.1176G>H r.(?) p.(Met392Ile)
+/. - c.1176G>H r.(?) p.(Met392Ile)
?/. - c.1290C>G r.(?) p.(Leu430=)
?/. - c.1318C>A r.(?) p.(Pro440Thr)
-?/. - c.1383G>A r.(?) p.(Gly461=)
-?/. - c.1383G>A r.(?) p.(Gly461=)
-?/. - c.1383G>A r.(=) p.(=)
-?/. - c.1420C>G r.(?) p.(Pro474Ala)
?/. - c.1420C>G r.(?) p.(Pro474Ala)
-/. - c.1461C>A r.(?) p.(Thr487=)
-?/. - c.1461C>A r.(?) p.(Thr487=)
-/. - c.1461C>A r.(?) p.(Thr487=)
-?/. - c.1461C>A r.(=) p.(=)
+/. - c.1490C>A r.(?) p.(Pro497His)
+/. - c.1516C>T r.(?) p.(Pro506Ser)
-?/. - c.1573C>T r.(?) p.(Pro525Ser)
+/. - c.1573C>T r.(?) p.(Pro525Ser)
?/. - c.1602G>A r.(?) p.(Thr534=)
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