Transcript #00000199

Transcript name UPF3 regulator of nonsense transcripts homolog B (yeast), transcript variant 1
Gene name UPF3B (UPF3 regulator of nonsense transcripts homolog B (yeast))
Chromosome X
Transcript - NCBI ID NM_080632.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_542199.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.52A>C VUS r.(?) p.(Thr18Pro)
-?/. - c.146C>T likely benign r.(?) p.(Ala49Val)
-/. - c.197A>G benign r.(?) p.(Gln66Arg)
-?/. - c.263G>A likely benign r.(?) p.(Ser88Asn)
-/. - c.263+2del benign r.spl? p.?
?/. 2i c.263+19delA - r.(?) p.(=)
?/. 2i c.263+19delA - r.(?) p.(=)
?/. - c.494A>T VUS r.(?) p.(Glu165Val)
-?/. - c.494A>T likely benign r.(?) p.(Glu165Val)
?/? 7 c.674_677del - r.(?) p.(Arg225Lysfs*22)
-?/. - c.764G>A likely benign r.(?) p.(Arg255Lys)
?/? 9 c.906_907del - r.(?) p.(Lys303Ilefs*8)
?/? 9 c.918A>G - r.(?) p.(=)
-?/. - c.1073G>A likely benign r.(?) p.(Arg358His)
+?/? 10 c.1101G>C - r.(?) p.(Lys367Asn)
?/. - c.1121G>A VUS r.(?) p.(Arg374His)
-?/. - c.1136G>A likely benign r.(?) p.(Arg379His)
-?/. - c.1178T>C likely benign r.(?) p.(Met393Thr)
+/. - c.1288C>T pathogenic r.(?) p.(Arg430*)
?/. 10i c.1302+122dup - r.(?) p.(=)
?/. 10i c.1302+142del - r.(?) p.(=)
?/. 10i c.1303-85T>G - r.(?) p.(=)
./. - c.1309del - r.(?) p.(Pro437Glnfs*54)
?/? 11 c.1327C>T - r.(?) p.(Arg443*)
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