Transcript #00016843 (NM_001001329.1, PRKCSH gene)

Transcript name transcript variant 2
Gene name PRKCSH (protein kinase C substrate 80K-H)
Chromosome 19
Transcript - NCBI ID NM_001001329.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001001329.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-11975C>T r.(?) p.(=)
?/. - c.-9047G>A r.(?) p.(=)
-?/. - c.-5066G>C r.(?) p.(=)
-?/. - c.-4774C>T r.(?) p.(=)
-?/. - c.-940A>G r.(?) p.(=)
?/. - c.188A>C r.(?) p.(Asp63Ala)
+/. - c.292+1G>C r.spl? p.?
-?/. - c.351-5C>T r.spl? p.?
-/. - c.351-5C>T r.spl? p.?
?/. - c.416G>A r.(?) p.(Arg139His)
+/. - c.430_432delinsAATAAGG r.(?) p.(Leu144AsnfsTer4)
-/. - c.549T>C r.(?) p.(Ala183=)
-?/. - c.628G>A r.(?) p.(Glu210Lys)
-?/. - c.753G>A r.(?) p.(Ala251=)
+/. - c.762+2T>C r.spl? p.?
-/. - c.807C>T r.(?) p.(Tyr269=)
-?/. - c.812G>A r.(?) p.(Arg271His)
-?/. - c.823G>A r.(?) p.(Ala275Thr)
-/. - c.850-14T>C r.(=) p.(=)
-/. - c.850-14T>C r.(=) p.(=)
-/. - c.850-14T>C r.(=) p.(=)
-/. - c.963_968del r.(?) p.(Glu324_Glu325del)
-/. - c.966_968del r.(?) p.(Glu325del)
?/. - c.966_968del r.(?) p.(Glu325del)
-/. - c.966_968del r.(?) p.(Glu325del)
-?/. - c.966_968del r.(?) p.(Glu325del)
-/. - c.966_968dup r.(?) p.(Glu325dup)
-?/. - c.976G>A r.(?) p.(Ala326Thr)
-?/. - c.976G>A r.(?) p.(Ala326Thr)
-?/. - c.1009G>A r.(?) p.(Val337Met)
-?/. - c.1029+9T>C r.(=) p.(=)
-/. - c.1256+14A>G r.(=) p.(=)
-/. - c.1329T>C r.(?) p.(Leu443=)
+/. - c.1332-2A>G r.spl? p.?
-?/. - c.1348A>G r.(?) p.(Ile450Val)
-?/. - c.1348A>G r.(?) p.(Ile450Val)
-?/. - c.1348A>G r.(?) p.(Ile450Val)
-/. - c.*185T>C r.(=) p.(=)
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