Transcript #00000547 (NM_025152.2, NUBPL gene)

Transcript name transcript variant 1
Gene name NUBPL (nucleotide binding protein-like)
Chromosome 14
Transcript - NCBI ID NM_025152.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_079428.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2012-09-13 12:31:22 +02:00 (CEST)
Date last edited N/A


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_4i;6i_7i c.-163463_383-17961delins[[513+16_608-15358inv];CCTCAGCCCCTCAAA] r.0? p.0?
?/. - c.-1C>T r.(=) p.(=)
?/. - c.2T>C r.(?) p.(Met1?)
?/. - c.13C>T r.(?) p.(Gln5*)
?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-/. - c.166G>A r.(?) p.Gly56Arg
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.166G>A r.(?) p.(Gly56Arg)
-?/. - c.268C>T r.(?) p.(Leu90Phe)
-/. - c.291+12963T>C r.(=) p.(=)
+?/. - c.313G>T r.(?) p.(Asp105Tyr)
+?/. - c.313G>T r.(?) p.(Asp105Tyr)
+?/. - c.351G>A r.(?) p.(Met117Ile)
-/. - c.383-20_383-19del r.(=) p.(=)
-/. - c.383-5dup r.spl? p.?
?/. - c.413G>A r.(?) p.(Gly138Asp)
?/. - c.426G>A r.(?) p.(Met142Ile)
?/. - c.488C>T r.(?) p.(Ser163Leu)
+/. - c.490dup r.(?) p.(Ala164Glyfs*3)
?/. - c.514-42302T>G r.(=) p.(=)
?/. - c.514-42302T>G r.(=) p.(=)
?/. - c.514-41806G>A r.(=) p.(=)
?/. - c.514-41806G>A r.(=) p.(=)
?/. - c.514-41756C>G r.(=) p.(=)
?/. - c.514-41756C>G r.(=) p.(=)
?/. - c.514-41534T>C r.(=) p.(=)
?/. - c.514-41534T>C r.(=) p.(=)
-?/. - c.545T>C r.(?) p.(Val182Ala)
-?/. - c.545T>C r.(?) p.(Val182Ala)
-?/. - c.545T>C r.(?) p.(Val182Ala)
+?/. - c.579A>C r.(?) p.(Leu193Phe)
-/. - c.593A>C r.(?) p.(Asn198Thr)
?/. - c.625A>C r.(?) p.(Thr209Pro)
-?/. - c.639C>T r.(?) p.(Ile213=)
+/. - c.667_668insCCTTGTGCTG r.(?) p.(Glu223Alafs*4)
+/. - c.693+1G>A r.spl p.?
+/. - c.693+1G>A r.spl p.?
-?/. - c.815-27T>C r.(=) p.(=)
?/. - c.815-27T>C r.(=) p.(=)
?/. - c.815-27T>C r.(=) p.(=)
+/. - c.815-27T>C r.[815_897del,814_815ins[815-72_815-28;c;815-26_815-1],=] p.?
+/. - c.815-27T>C r.spl p.?
+/. - c.815-27T>C r.spl p.?
+/. - c.815-27T>C r.spl p.?
+/. - c.815-27T>C r.spl p.?
+/. - c.815-27T>C r.spl p.?
+/. - c.815-27T>C r.spl p.?
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