Transcript #00006406 (NM_138615.2, DHX30 gene)

Transcript name transcript variant 1
Gene name DHX30 (DEAH (Asp-Glu-Ala-His) box polypeptide 30)
Chromosome 3
Transcript - NCBI ID NM_138615.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_619520.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.347_360del r.(?) p.(Ala116Valfs*12)
?/. - c.706A>G r.(?) p.(Ile236Val)
?/. - c.723G>C r.(?) p.(Gln241His)
-/. - c.790-20C>T r.(=) p.(=)
-?/. - c.952G>A r.(?) p.(Val318Met)
?/. - c.1234C>T r.(?) p.(Arg412Cys)
-?/. - c.1254A>G r.(?) p.(Leu418=)
?/. - c.1367C>T r.(?) p.(Ser456Phe)
+?/. - c.1385G>A r.(?) p.(Gly462Glu)
+/. - c.1478G>A r.(?) p.(Arg493His)
+/. 11 c.1478G>A r.(?) p.(Arg493His)
+/. - c.1478G>A r.(?) p.(Arg493His)
+/. - c.1478G>A r.(?) p.(Arg493His)
+/. - c.1478G>A r.(?) p.(Arg493His)
?/. - c.1496_1497del r.(?) p.(Val499Glyfs*25)
?/. - c.1534C>T r.(?) p.(Arg512Cys)
?/. - c.1591G>T r.(?) p.(Ala531Ser)
+/. 11 c.1685A>G r.(?) p.(His562Arg)
+/. - c.1685A>G r.(?) p.(His562Arg)
?/. - c.1792C>T r.(?) p.(Arg598Cys)
+?/. - c.2174G>A r.(?) p.(Arg725His)
+/. - c.2201C>A r.(?) p.(Ala734Asp)
+/. - c.2215A>G r.(?) p.(Thr739Ala)
+/. - c.2342G>A r.(?) p.(Gly781Asp)
+/. - c.2342G>A r.(?) p.(Gly781Asp)
+/. - c.2342G>A r.(?) p.(Gly781Asp)
+/. - c.2342G>A r.(?) p.(Gly781Asp)
?/. - c.2344C>T r.(?) p.(Arg782Trp)
+/. 15 c.2344C>T r.(?) p.(Arg782Trp)
+/. 15 c.2344C>T r.(?) p.(Arg782Trp)
+/. - c.2344C>T r.(?) p.(Arg782Trp)
+/. - c.2344C>T r.(?) p.(Arg782Trp)
+/. - c.2344C>T r.(?) p.(Arg782Trp)
+/. - c.2344C>T r.(?) p.(Arg782Trp)
+?/. - c.2345G>A r.(?) p.(Arg782Gln)
+/. - c.2345G>A r.(?) p.(Arg782Gln)
+?/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2353C>T r.(?) p.(Arg785Cys)
+/. - c.2354G>A r.(?) p.(Arg785His)
+/. - c.2354G>A r.(?) p.(Arg785His)
+/. - c.2389C>T r.(?) p.(Arg797*)
?/. - c.2644C>T r.(?) p.(Arg882Trp)
?/. - c.2707G>A r.(?) p.(Val903Ile)
+/. - c.2723G>A r.(?) p.(Arg908Gln)
?/. - c.2863C>T r.(?) p.(Arg955Cys)
-?/. - c.2930-4C>T r.spl? p.?
-/. - c.3312C>T r.(?) p.(Asp1104=)
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