Transcript #00024041 (NM_133433.3, NIPBL gene)

Transcript name transcript variant A
Gene name NIPBL (Nipped-B homolog (Drosophila))
Chromosome 5
Transcript - NCBI ID NM_133433.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_597677.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2015-06-26 14:05:27 +02:00 (CEST)
Date last edited N/A


Variants

520 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_47_ c.(?_-481)_(*927_?)del r.(?) p.0?
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?)
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?)
+/. 1 c.-94C>T r.(?) p.(?)
+/. 1i c.-79-2A>G r.spl p.?
+/. 10 c.(3071C>?) r.(?) p.(Ser1024*)
+/. 18 c.(4193C>?) r.(?) p.(Ser1398*)
+/. 30i_47_ c.(5710-?)_(*927_?)del r.(?) p.(?)
+/. 31 c.5721_5725de r.(?) p.(Glu1908Ilefs*13)
+/. 2 c.2T>A r.(?) p.(Met1?)
+/. 2 c.2T>A r.(?) p.(Met1?)
+/. 2 c.2T>A r.(?) p.(Met1?)
+/. - c.3G>T r.(?) p.(Met1?)
+/. - c.10dup r.(?) p.(Asp4Glyfs*15)
+/. 2 c.13_14dup r.(?) p.(Met5Ilefs*20)
+/. 2 c.43G>A r.(?) p.(Gly15Arg)
+/. 2 c.43G>A r.(?) p.Gly15Arg
+?/. 3 c.64-3T>G r.spl p.?
+/. 2i c.64+1G>A r.spl p.?
+?/. 2 c.64+1G>A r.spl p.?
+/. 2i c.64+1G>A r.spl p.?
+/. 2i c.64+5G>A r.spl? p.?
+/. 2i c.65-5A>G r.spl? p.?
+/. 2i c.65-5A>G r.spl? p.?
+/. 2i c.65-5A>G r.spl? p.(Leu22Hisfs*23)
+/. 2i c.65-5A>G r.spl? p.?
+/. 2i c.65-5A>G r.spl? p.?
+/. 3 c.70_79del r.70_79delAACCAGCTG p.(Asn24_Leu26del)
+/. 3 c.86C>A r.(?) p.(Pro29Gln)
+/. 3 c.86C>A r.(?) p.(Pro29Gln)
+/. 3 c.86C>A r.(?) p.Pro29Gln
+/. 3 c.86del r.(?) p.(Pro29Hisfs*18)
+/. 3 c.95del r.(?) p.(Leu32Tyrfs*15)
+/. 3 c.133C>T r.(?) p.(Arg45*)
+/. 3 c.150del r.(?) p.(Asn51Thrfs*27)
-?/. - c.179A>G r.(?) p.(Asn60Ser)
+?/. 3 c.190C>T r.(?) p.(Gln64*)
+/. 3 c.199_208delinsATCAACAGGTGAC r.(?) p.(His67Ilefs*4)
-?/. 3 c.218C>T r.(?) p.(Ser72Leu)
+/. 3i c.230+1G>A r.65_230del p.(Leu22Glnfs*3)
-/. 3i c.230+61C>A r.(?) p.(=)
+?/. 3i_4i c.(230+1_231-1)_(358+1_359-1)del r.? p.?
-?/. 4 c.256G>A r.(?) p.(Asp86Asn)
?/. 4 c.256G>A r.(?) p.(Asp86Asn)
+?/. - c.272_280del r.(?) p.(Asp91_Pro93del)
-?/. - c.294C>T r.(?) p.(Ala98=)
?/. - c.313A>G r.(?) p.(Asn105Asp)
+/. 4 c.332G>C r.(?) p.(Ser111Thr)
-?/. 4 c.332G>C r.(?) p.Ser111Thr
+/. 4 c.347dup r.(?) p.(Tyr116*)
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5)
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5)
+?/. 4i c.358+3G>T r.spl? p.?
+?/. - c.358+5G>C r.spl? p.?
+/. 5i c.(415_416insTTAT) r.(?) p.(Ser139Phefs*13)
+/. - c.430C>T r.(?) p.(Gln144Ter)
+?/. 5i c.459-9G>A r.spl? p.(=)
+/. 5i c.459-2A>G r.spl p.?
+/. 6 c.460del r.(?) p.(Arg154Glyfs*62)
?/. - c.507G>T r.(?) p.(Gln169His)
?/. - c.507G>T r.(?) p.(Gln169His)
+/. 6 c.513dup r.(?) p.(Ser172*)
+/. 6 c.513dup r.(?) p.(Ser172*)
+/. 6 c.535G>A r.(?) p.(Ala179Thr)
-?/. - c.535G>A r.(?) p.(Ala179Thr)
-?/. 6 c.535G>A r.(?) p.Ala179Thr
-?/. - c.535G>A r.(?) p.(Ala179Thr)
+/. 6 c.575C>T r.(?) p.(Pro192Leu)
?/. 6 c.575C>T r.(?) p.Pro192Leu
+/. - c.598C>T r.(?) p.(Gln200*)
+/. - c.610+1G>A r.spl? p.?
+/. 6i c.610+5G>C r.spl? p.?
+/. - c.611-6T>C r.(=) p.(=)
+/. 6i c.611-6T>C r.spl? p.(=)
+/. 6i c.611-6T>C r.spl? p.(=)
+/. 6i c.611-2A>G r.spl p.?
+/. 6i c.611-2A>G r.spl p.?
+/. 7 c.737A>G r.(?) p.(Asp246Gly)
+/. 7 c.737A>G r.(?) p.(Asp246Gly)
-?/. 7 c.737A>G r.(?) p.Asp246Gly
+/. 7 c.742_743del r.(?) p.(Leu248Thrfs*8)
+/. 7 c.760C>G r.(?) p.(Leu254Val)
-?/. 7 c.760C>G r.(?) p.Leu254Val
+?/. 7 c.771+1G>A r.spl p.?
+/. 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del)
+/. 8 c.781T>G r.(?) p.(Ser262Ala)
-?/. - c.781T>G r.(?) p.(Ser261Ala)
-?/. 8 c.781T>G r.(?) p.Ser262Ala
?/. - c.784T>C r.(?) p.(Ser262Pro)
?/. - c.802G>A r.(?) p.(Ala268Thr)
+/. 8 c.826C>T r.(?) p.(Gln276*)
-?/. - c.834A>G r.(?) p.(Val278=)
-?/. - c.839C>T r.(?) p.(Ser280Phe)
+/. 8i c.868+1G>A r.spl p.?
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del)
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del)
+/. 9 c.889dup r.(?) p.(Leu297Profs*39)
+?/. 9 c.914C>A r.(?) p.(Ser305*)
?/. - c.940A>G r.(?) p.(Ile314Val)
+/. 9 c.961del r.(?) p.(Arg321Glufs*9)
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