Transcript #00004439

Transcript name DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
Gene name DDX53 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 53)
Chromosome X
Transcript - NCBI ID NM_182699.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_874358.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

70 entries on 1 page. Showing entries 1 - 70.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-23G>A r.(=) p.(=)
?/? c.-6del r.(=) p.(=)
?/? c.13G>A r.(?) p.(Ala5Thr)
?/? c.80G>A r.(?) p.(Ser27Asn)
?/? c.113A>G r.(?) p.(His38Arg)
?/? c.185T>C r.(?) p.(Val62Ala)
?/? c.190A>G r.(?) p.(Ile64Val)
?/? c.193G>A r.(?) p.(Gly65Ser)
?/? c.222A>C r.(=) p.(=)
?/? c.287T>C r.(?) p.(Phe96Ser)
?/? c.315C>T r.(=) p.(=)
?/? c.319G>T r.(?) p.(Ala107Ser)
?/? c.346C>G r.(?) p.(Gln116Glu)
?/? c.369C>T r.(=) p.(=)
?/? c.400A>G r.(?) p.(Ile134Val)
?/? c.461A>G r.(?) p.(Asp154Gly)
?/? c.479T>C r.(?) p.(Val160Ala)
?/? c.490G>A r.(?) p.(Glu164Lys)
?/? c.511C>T r.(=) p.(=)
?/? c.536A>C r.(?) p.(Tyr179Ser)
?/? c.561C>T r.(=) p.(=)
?/? c.607_608del r.(?) p.(Ile203Asnfs*3)
?/? c.611C>T r.(?) p.(Thr204Met)
?/? c.700C>T r.(=) p.(=)
?/? c.742A>T r.(?) p.(Ile248Phe)
?/? c.754G>A r.(?) p.(Ala252Thr)
?/? c.781G>A r.(?) p.(Asp261Asn)
?/? c.801A>G r.(=) p.(=)
?/? c.861A>G r.(=) p.(=)
?/? c.942T>A r.(=) p.(=)
?/? c.985A>C r.(?) p.(Ile329Leu)
?/? c.1004G>T r.(?) p.(Arg335Ile)
?/? c.1010G>A r.(?) p.(Gly337Glu)
?/? c.1030A>C r.(?) p.(Lys344Gln)
?/? c.1059T>C r.(=) p.(=)
?/? c.1074C>T r.(=) p.(=)
?/? c.1080A>G r.(=) p.(=)
?/? c.1099C>T r.(=) p.(=)
?/? c.1117T>C r.(=) p.(=)
?/? c.1143G>T r.(?) p.(Met381Ile)
?/? c.1172G>T r.(?) p.(Arg391Met)
?/? c.1193G>A r.(?) p.(Arg398His)
?/? c.1201C>T r.(?) p.(Arg401*)
?/? c.1202G>A r.(?) p.(Arg401Gln)
?/? c.1244G>A r.(?) p.(Arg415His)
?/? c.1245T>C r.(=) p.(=)
?/? c.1250T>A r.(?) p.(Leu417Gln)
?/? c.1355A>G r.(?) p.(Glu452Gly)
?/? c.1381G>A r.(?) p.(Val461Ile)
?/? c.1455C>T r.(=) p.(=)
?/? c.1456G>A r.(?) p.(Asp486Asn)
?/? c.1496G>T r.(?) p.(Gly499Val)
?/? c.1535A>C r.(?) p.(Asp512Ala)
?/? c.1577T>C r.(?) p.(Ile526Thr)
?/? c.1578A>C r.(=) p.(=)
?/? c.1610C>T r.(?) p.(Thr537Ile)
?/? c.1632C>T r.(=) p.(=)
?/? c.1648G>A r.(?) p.(Val550Ile)
?/? c.1654G>A r.(?) p.(Val552Ile)
?/? c.1702G>A r.(?) p.(Val568Ile)
?/? c.1724A>G r.(?) p.(Asp575Gly)
?/? c.1766C>T r.(?) p.(Ala589Val)
?/? c.1775G>A r.(?) p.(Ser592Asn)
?/? c.1782G>A r.(=) p.(=)
?/? c.1792G>A r.(?) p.(Val598Ile)
?/? c.1795G>A r.(?) p.(Val599Ile)
?/? c.1847G>A r.(?) p.(Arg616Gln)
?/? c.1854A>C r.(?) p.(Arg618Ser)
?/? c.1856A>G r.(?) p.(Lys619Arg)
?/? c.1863A>G r.(=) p.(=)
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