Transcript #00024249 (NM_001356.3, DDX3X gene)

Transcript name DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked, transcript variant 1
Gene name DDX3X (DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked)
Chromosome X
Transcript - NCBI ID NM_001356.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001347.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.46-5_46-3del r.spl? p.?
+/. 1i c.46-2A>C r.spl p.?
+/. 1i c.46-2A>G r.spl p.?
+/. - c.46-1G>A r.spl? p.?
+/. - c.77del r.(?) p.(Asn26Ilefs*18)
-?/. - c.98C>T r.(?) p.(Ala33Val)
./. - c.103+193dup r.(=) p.(=)
-?/. - c.104-3del r.spl? p.?
./. - c.136C>T r.(?) p.(Arg46*)
+/. - c.136C>T r.(?) p.(Arg46Ter)
?/. - c.152-5C>G r.spl? p.?
?/. - c.158A>G r.(?) p.(Tyr53Cys)
?/. - c.158A>G r.(?) p.(Tyr53Cys)
-?/. - c.170G>A r.(?) p.(Ser57Asn)
+/. 4 c.192dup r.(?) p.(Asp65Argfs*2)
+/. - c.224dup r.(?) p.(Ser76Ter)
+/. 4 c.233C>G r.(?) p.(Ser78*)
+/. - c.236G>A r.(?) p.(Arg79Lys)
+/. - c.236G>A r.(?) p.(Arg79Lys)
-?/. - c.252C>T r.(?) p.(Phe84=)
+/. - c.262del r.(?) p.(Arg88ValfsTer133)
+/. 4 c.269dup r.(?) p.(Ser90Argfs*8)
?/. - c.362G>A r.(?) p.(Arg121His)
+/. 5 c.362G>T r.(?) p.(Arg121Leu)
+/. - c.386dup r.(?) p.(Asp129GlufsTer5)
?/. - c.421C>G r.(?) p.(Pro141Ala)
+/. - c.442C>T r.(?) p.(Gln148*)
+?/. - c.444-1G>C r.spl? p.?
+/. - c.453_454del r.(?) p.(Ser152TrpfsTer7)
?/. - c.458G>T r.(?) p.(Gly153Val)
?/. - c.491A>G r.(?) p.(Asp164Gly)
+?/. - c.499C>T r.(?) p.(Pro167Ser)
+/. - c.577G>T r.(?) p.(Gly193*)
+?/. - c.584T>G r.(?) p.(Ile195Ser)
+/. 7 c.599dup r.(?) p.(Tyr200*)
+?/. 7 c.600_601dup r.(?) p.(Thr201Ilefs*21)
./. - c.641T>C r.(?) p.(Ile214Thr)
+/. 7 c.641_643del r.(?) p.(Ile214del)
+/. 8 c.698C>T r.(?) p.(Ala233Val)
+/. 8 c.704T>C r.(?) p.(Leu235Pro)
+/. - c.731C>G r.(?) p.(Ser244Ter)
+/. - c.731C>G r.(?) p.(Ser244Ter)
+/. 8i c.766-1G>C r.spl p.?
+/. - c.830_831del r.(?) p.(Glu277ValfsTer17)
+/. 9i c.865-2A>G r.spl p.?
+/. - c.865-1G>A r.spl? p.?
+/. 10 c.868del r.(?) p.(Ser290Hisfs*31)
-?/. - c.870A>G r.(?) p.(Ser290=)
+/. 10 c.873C>A r.(?) p.(Tyr291*)
+?/. - c.873C>A r.(?) p.(Tyr291Ter)
+/. - c.874C>T r.(?) p.(Arg292*)
+?/. - c.877T>C r.(?) p.(Ser293Pro)
+/. 10 c.898G>T r.(?) p.(Val300Phe)
+/. - c.904G>A r.(?) p.(Gly302Ser)
+/. 10 c.931C>T r.(?) p.(Arg311*)
+?/. - c.950G>A r.(?) p.(Cys317Tyr)
-?/. - c.969T>C r.(?) p.(Thr323=)
?/. - c.976C>T r.(?) p.(Arg326Cys)
+/. 10 c.977G>A r.(?) p.(Arg326His)
?/. - c.1023C>T r.(?) p.(Cys341=)
+?/. - c.1026-6T>G r.(=) p.(=)
+/. - c.1031T>A r.(?) p.(Leu344Ter)
+?/. - c.1033G>T r.(?) p.(Val345Leu)
+/. - c.1037T>G r.(?) p.(Leu346Ter)
+/. 11 c.1052G>A r.(?) p.(Arg351Gln)
+/. 11 c.1084C>T r.(?) p.(Arg362Cys)
+/. 11 c.1105dup r.(?) p.(Thr369Asnfs*14)
+/. - c.1126C>G r.(?) p.(Arg376Gly)
+/. 11 c.1126C>T r.(?) p.(Arg376Cys)
+/. - c.1126C>T r.(?) p.(Arg376Cys)
+?/. - c.1126C>T r.(?) p.(Arg376Cys)
./. - c.1126C>T r.(?) p.(Arg376Cys)
+/. 11 c.1126C>T r.(?) p.(Arg376Cys)
+?/. - c.1127G>A r.(?) p.(Arg376His)
+?/. - c.1150A>C r.(?) p.(Thr384Pro)
+/. - c.1154_1159del r.(?) p.(Phe385Ter)
+?/. - c.1156C>T r.(?) p.(Pro386Ser)
+?/. - c.1156C>T r.(?) p.(Pro386Ser)
+/. - c.1170+1G>A r.spl? p.?
+/. 12 c.1175T>C r.(?) p.(Leu392Pro)
+/. 12 c.1229_1230dup r.(?) p.(Thr411Leufs*10)
+/. 12 c.1250A>C r.(?) p.(Gln417Pro)
+?/. - c.1315+1G>C r.spl p.?
-?/. - c.1315+5C>T r.spl? p.?
+/. 13 c.1321del r.(?) p.(Asp441Ilefs*3)
+?/. - c.1330dup r.(?) p.(Thr444AsnfsTer21)
+/. 13 c.1383dup r.(?) p.(Tyr462Ilefs*3)
+/. 13 c.1384_1385dup r.(?) p.(His463Thrfs*34)
+/. 13 c.1423C>G r.(?) p.(Arg475Gly)
+?/. - c.1423C>T r.(?) p.(Arg475Cys)
-?/. - c.1434G>A r.(?) p.(Arg478=)
+/. 13 c.1436_1439delinsTCTC r.(?) p.(Asp479_Arg480delinsValSer)
+/. 13 c.1440A>T r.(?) p.(Arg480Ser)
+?/. - c.1440A>T r.(?) p.(Arg480Ser)
?/. - c.1457A>C r.(?) p.(Gln486Pro)
+/. 13 c.1463G>A r.(?) p.(Arg488His)
+?/. - c.1463G>A r.(?) p.(Arg488His)
+/. - c.1486G>A r.(?) p.(Val496Met)
?/. - c.1492A>G r.(?) p.(Thr498Ala)
+/. 14 c.1511G>A r.(?) p.(Gly504Glu)
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