Transcript #00010139

Transcript name transcript variant 1
Gene name IRF6 (interferon regulatory factor 6)
Chromosome 1
Transcript - NCBI ID NM_006147.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006138.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.25C>T r.(?) p.(Arg9Trp)
-/. - c.175-5C>G r.spl? p.?
+?/. - c.206A>G r.(?) p.(Glu69Gly)
?/. - c.239A>G r.(?) p.(Lys80Arg)
-/. - c.459G>T r.(?) p.(Ser153=)
?/. - c.521C>T r.(?) p.(Ala174Val)
?/. - c.622C>T r.(?) p.(Gln208Ter)
+/. - c.673G>C r.(?) p.(Asp225His)
+?/. - c.748C>T r.(?) p.(Arg250*)
+?/. - c.819G>C r.(?) p.(Gln273His)
?/. - c.901G>A r.(?) p.(Gly301Arg)
-?/. - c.997G>A r.(?) p.(Ala333Thr)
+?/. - c.1052T>C r.(?) p.(Phe351Ser)
?/. - c.1060G>A r.(?) p.(Asp354Asn)
+/. - c.1139C>A r.(?) p.(Pro380Gln)
-/. - c.1179+68T>C r.(=) p.(=)
+/. - c.1198C>T r.(?) p.(Arg400Trp)
+/. - c.1210G>A r.(?) p.(Glu404Lys)
+?/. - c.1259_1275del r.(?) p.(Arg420Profs*6)
?/. - c.1318T>C r.(?) p.(Tyr440His)
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