Transcript #00000850 (NM_018486.2, HDAC8 gene)

Transcript name transcript variant 1
Gene name HDAC8 (histone deacetylase 8)
Chromosome X
Transcript - NCBI ID NM_018486.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_060956.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

78 entries on 1 page. Showing entries 1 - 78.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1 c.-342_(-261_112-1)[0] r.0? p.0?
+/. _1_9i c.-342_(1005+49222_1006-1)[0] r.0? p.0?
+/. _1_4i c.-342_(438-16915_438-1)[0] r.0? p.0?
+/. _1_4i c.-342_(438-31863_438-1)[0] r.0? p.0?
+/. 10i_11_ c.1112-1204_*538[0] r.? p.?
+/. 10i_11_ c.1112-1204_*538[0] r.? p.?
./. _1_11_ c.-302839_628+135del - -
-?/. - c.22G>A r.(?) p.(Ala8Thr)
+/. 1 c.56T>G r.(?) p.(Ile19Ser)
-?/. 1i c.112-17dup r.(=) p.(=)
-?/. 1i c.112-16del r.(=) p.(=)
+/. - c.112-1G>A r.spl? p.?
?/. 2 c.113C>T r.(?) p.(Ala38Val)
+/. 2 c.125A>C r.(?) p.(His42Pro)
-?/. - c.159G>A r.(=) p.(=)
+/. 2i c.164+5G>A r.112_164del p.Ala38Aspfs*3
-/. - c.169G>A r.(?) p.(Val57Ile)
+/. 3 c.211C>T r.(?) p.(His71Tyr)
+/. 3 c.211C>T r.(?) p.(His71Tyr)
+/. 3 c.272C>T r.(?) p.(Pro91Leu)
-?/. - c.296-4dup r.spl? p.?
+/. 4 c.350G>A r.(?) p.(Gly117Glu)
-?/. - c.351G>T r.(?) p.(Gly117=)
+/. 4i_10i c.(437+1_437+32290)_(1111+1493_1112-1)del r.? p.(Asp147Glufs*17)
./. _1_11_ c.438-3387_*426820dup - -
+?/. 5 c.448T>C r.(?) p.(Ser150Pro)
+?/. 5 c.457T>C r.(?) p.(Cys153Arg)
+?/. - c.458G>A r.(?) p.(Cys153Tyr)
+/. 5 c.458G>T r.(?) p.(Cys153Phe)
?/. - c.467A>G r.(?) p.(Asn156Ser)
-?/. - c.468T>C r.(?) p.(Asn156=)
+?/. 5 c.468T>G r.(?) p.(Asn156Lys)
./. - c.479T>C r.(?) p.(Leu160Pro)
+/. 5 c.490C>T r.(?) p.(Arg164*)
+?/. 5 c.496C>T r.(?) p.(Arg166*)
-?/. - c.516T>A r.(?) p.(Ile172=)
+/. 5 c.539A>G r.(?) p.(His180Arg)
+/. 5i_9i c.(550+1_551-1419)_(1006-19587_1006-1)dup r.? p.(Phe336Leufs*1)
+/. 6 c.562G>A r.(?) p.(Ala188Thr)
+/. 6 c.562G>A r.(?) p.(Ala188Thr)
+/. 6 c.562G>A r.(?) p.(Ala188Thr)
+/. 6 c.562G>A r.(?) p.(Ala188Thr)
+?/. - c.562G>A r.(?) p.(Ala188Thr)
+/. - c.587T>A r.(?) p.(Met196Lys)
+?/. - c.601C>T r.(?) p.(His201Tyr)
+?/. 6 c.618_628del r.spl? p.(Phe207Asnfs*3)
?/. - c.625C>T r.(?) p.(Pro209Ser)
./. - c.667C>T r.(?) p.(Arg223Trp)
?/. - c.688C>T r.(?) p.(Pro230Ser)
+/. 8 c.698A>G r.(?) p.(Asp233Gly)
+/. 8 c.706C>T r.(?) p.(Gln236*)
+/. 7 c.709G>T r.(?) p.(Asp237Tyr)
+/. 7 c.717_719del r.(?) p.(Lys239_Tyr240delinsAsn)
+/. 7 c.728T>A r.(?) p.(Ile243Asn)
+?/. - c.737+1G>A r.spl? p.?
+?/. - c.738-1G>A r.spl? p.?
+/. - c.738-1G>A r.spl? p.?
+/. - c.770C>G r.(?) p.(Pro257Arg)
+?/. 8 c.770C>T r.(?) p.(Pro257Leu)
+?/. 8 c.839C>T r.(?) p.(Thr280Ile)
+?/. 8 c.839C>T r.(?) p.(Thr280Ile)
+?/. 8 c.860G>A r.(?) p.(Cys287Tyr)
+/. 8 c.881G>A r.(?) p.(Trp294*)
+/. 8 c.910G>A r.(?) p.(Gly304Arg)
+?/+ 8i c.910+1G>A r.738_1005del p.Val247Phefs*38
+/. 9 c.932C>T r.(?) p.(Thr311Met)
+/. 9 c.932C>T r.(?) p.(Thr311Met)
+/. - c.932C>T r.(?) p.(Thr311Met)
-?/. - c.957C>T r.(=) p.(=)
+?/. - c.958G>A r.(?) p.(Gly320Arg)
+/. 9 c.958G>A r.(?) p.(Gly320Arg)
+?/. 9 c.958G>A r.(?) p.(Gly320Arg)
+?/. - c.958G>A r.(?) p.(Gly320Arg)
+/. 9 c.1001A>G r.(?) p.(His334Arg)
+/. 9 c.1001A>G r.(?) p.(His334Arg)
+/. 9 c.1001A>G r.(?) p.(His334Arg)
+/. 10 c.1006-2A>G r.spl p.?
-/. - c.*392C>G r.(=) p.(=)
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