Transcript #00022888 (NM_016373.2, WWOX gene)

Transcript name transcript variant 1
Gene name WWOX (WW domain containing oxidoreductase)
Chromosome 16
Transcript - NCBI ID NM_016373.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057457.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

80 entries on 1 page. Showing entries 1 - 80.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.108-12G>T r.(=) p.(=)
-?/. - c.173-6T>G r.(=) p.(=)
+?/. - c.173-1G>T r.spl p.?
+?/. 3 c.183C>A r.(?) p.(Tyr61*)
+?/. - c.214C>T r.(?) p.(Gln72Ter)
-?/. - c.222T>C r.(?) p.(Phe74=)
?/. - c.251C>G r.(?) p.(Thr84Ser)
-/. - c.293C>T r.(?) p.(Pro98Leu)
-/. - c.293C>T r.(?) p.(Pro98Leu)
-/. - c.293C>T r.(?) p.(Pro98Leu)
./. - c.310C>T r.(?) p.(Arg104Trp)
-?/. - c.332C>G r.(?) p.(Thr111Ser)
-?/. - c.358C>T r.(?) p.(Arg120Trp)
-?/. - c.358C>T r.(?) p.(Arg120Trp)
-?/. - c.358C>T r.(?) p.(Arg120Trp)
?/. - c.406A>G r.(?) p.(Ile136Val)
+?/. - c.409+1G>T r.spl? p.?
?/. - c.410G>T r.(?) p.(Gly137Val)
-?/. - c.421G>A r.(?) p.(Ala141Thr)
?/. - c.421G>A r.(?) p.(Ala141Thr)
-?/. - c.480G>A r.(?) p.(Arg160=)
-/. - c.516+6T>C r.(=) p.(=)
-/. - c.517-108260C>A r.(=) p.(=)
-?/. - c.517-108230A>G r.(=) p.(=)
-/. - c.517-108230A>G r.(=) p.(=)
-?/. - c.517-3C>A r.spl? p.?
-/. - c.535G>A r.(?) p.(Ala179Thr)
?/. - c.535G>A r.(?) p.(Ala179Thr)
?/. - c.605+6_605+18del r.(=) p.(=)
-/. - c.606-17G>A r.(=) p.(=)
+/. - c.606-1G>A r.spl p.?
+?/. - c.606-1G>A r.spl? p.?
-/. - c.613C>A r.(?) p.(His205Asn)
./. - c.635C>T r.(?) p.(Ala212Val)
?/. - c.637A>T r.(?) p.(Thr213Ser)
?/. - c.689A>C r.(?) p.(Gln230Pro)
?/. - c.716T>G r.(?) p.(Leu239Arg)
+/. - c.716T>G r.(?) p.(Leu239Arg)
+?/. 7 c.735dup r.(?) p.(Val246CysfsTer24)
-?/. - c.754C>G r.(?) p.(Pro252Ala)
./. - c.754C>G r.(?) p.(Pro252Ala)
-?/. - c.798A>C r.(?) p.(Thr266=)
-?/. - c.807C>T r.(?) p.(Asn269=)
-?/. - c.816G>T r.(?) p.(Leu272Phe)
-?/. - c.816G>T r.(?) p.(Leu272Phe)
-/. - c.835C>T r.(?) p.(Arg279Cys)
-?/. - c.876T>C r.(?) p.(Ala292=)
-?/. - c.888C>G r.(?) p.(Ser296=)
-?/. - c.915C>T r.(?) p.(Asn305=)
+?/. 5 c.918del r.(?) p.(Glu306Aspfs*21)
+?/. - c.918del r.(?) p.(Glu306Aspfs*21)
?/. - c.928C>T r.(?) p.(Arg310Cys)
-?/. - c.933C>G r.(?) p.(Leu311=)
./. - c.946G>C r.(?) p.(Val316Leu)
./. - c.990C>G r.(?) p.(Asn330Lys)
?/. - c.998G>A r.(?) p.(Arg333His)
?/. - c.1006T>G r.(?) p.(Trp336Gly)
-?/. - c.1029C>G r.(?) p.(Thr343=)
-?/. - c.1035G>A r.(?) p.(Ala345=)
-?/. - c.1035G>A r.(?) p.(Ala345=)
-?/. - c.1057-4C>T r.spl? p.?
?/. 5i_8i c.(516+1_5171)_(1056+1_1057-1)dup r.? p.?
-?/. - c.1108G>A r.(?) p.(Gly370Ser)
-/. - c.1134C>T r.(?) p.(Asn378=)
-?/. - c.1134C>T r.(?) p.(Asn378=)
?/. - c.1142G>A r.(?) p.(Arg381His)
./. - c.1142G>A r.(?) p.(Arg381His)
./. - c.1178C>T r.(?) p.(Thr393Met)
-?/. - c.1178C>T r.(?) p.(Thr393Met)
-?/. - c.1178C>T r.(?) p.(Thr393Met)
-?/. - c.1197G>A r.(?) p.(Ala399=)
-?/. - c.1197G>A r.(?) p.(Ala399=)
./. - c.1204G>A r.(?) p.(Glu402Lys)
./. - c.1204G>A r.(?) p.(Glu402Lys)
?/. - c.1204G>A r.(?) p.(Glu402Lys)
+?/. - c.1204G>T r.(?) p.(Glu402Ter)
./. - c.1222C>T r.(?) p.(Arg408Trp)
-/. - c.1238C>A r.(?) p.(Ser413Tyr)
-/. - c.1239C>T r.(?) p.(Ser413=)
-?/. - c.1239C>T r.(?) p.(=)
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