Transcript #00000150 (NM_022455.4, NSD1 gene)

Transcript name nuclear receptor binding SET domain protein 1, transcript variant 2
Gene name NSD1 (nuclear receptor binding SET domain protein 1)
Chromosome 5
Transcript - NCBI ID NM_022455.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_071900.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

525 entries on 6 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.(?_-579)_(*1023_?) r.(?) p.(?)
?/. - c.-29del r.(?) p.(=)
-?/. - c.-17-113del r.(?) p.(?)
?/-? 2 c.-8G>A r.(?) p.(=)
+/. 2i c.(927+1_928-1) r.? p.?
+/. _1_23_ c.0 r.0 p.0
+/. _1_23_ c.0 r.0 p.0
?/. - c.29G>T r.(?) p.(Arg10Ile)
?/. - c.71C>T r.(?) p.(Ala24Val)
?/. - c.197C>T r.(?) p.(Pro66Leu)
-?/. - c.217C>T r.(?) p.(Arg73Trp)
?/. - c.243G>C r.(?) p.(Met81Ile)
-?/. - c.298C>A r.(?) p.(Pro100Thr)
?/? 2 c.339C>T r.(?) p.(Cys113=)
?/. - c.344C>G r.(?) p.(Ser115Cys)
-?/. - c.395G>C r.(?) p.(Cys132Ser)
-/. - c.480C>T r.(?) p.(Asp160=)
?/. 3 c.521T>A r.(?) p.(Val174Asp)
-?/. - c.607G>A r.(?) p.(Val203Ile)
-/. - c.682C>G r.(?) p.(Pro228Ala)
?/. - c.757C>G r.(?) p.(Leu253Val)
?/. - c.886C>A r.(?) p.(Pro296Thr)
?/. 2 c.914A>G r.(?) p.(Gln305Arg)
?/. 3i c.927+5G>A r.spl? p.?
-/. 2i c.927+48A>G r.(=) p.(=)
?/. 3 c.947C>A r.(?) p.(Ser316Tyr)
+/. 3 c.1007G>A r.0 p.0
?/. - c.1021A>G r.(?) p.(Ile341Val)
+?/. 4 c.1086_1089del r.(?) p.(Gln363Thrfs*55)
?/+ 4 c.1091A>G r.(?) p.(Tyr364Cys)
+?/. 4 c.1107del r.(?) p.(Phe369Leufs*50)
+/. 4 c.1171del r.(?) p.(Gln391AsnfsTer28)
+/. - c.1183C>T r.(?) p.(Leu395=)
+?/. 5 c.1216_1219del r.(?) p.(Glu406Lysfs*12)
+?/. 4 c.1222_1223insAA r.(?) p.(Gly408Glufs*12)
?/. 4 c.1236G>A r.(?) p.(=)
?/. 4i c.1236+2T>G r.spl p.?
?/. 4 c.1236+2T>G r.spl p.?
-/. - c.1236+9C>T r.(=) p.(=)
+/. 4i_5i c.(1236+1_1237-1)_(3796+1_3797-1)del r.? p.?
+/. 5 c.1288C>T r.(?) p.(Gln430*)
+/. 5 c.1310C>G r.(?) p.(Ser437*)
+/. 5 c.1318C>T r.(?) p.(Arg440Ter)
+?/. 5 c.1447del r.(?) p.(Ser483Leufs*29)
+?/. 5 c.1482C>A r.(?) p.(Cys494*)
-/. - c.1482C>T r.(?) p.(Cys494=)
-/. 5 c.1482C>T r.(?) p.(Cys494Cys)
-/. - c.1482C>T r.(?) p.(Cys494=)
-/. - c.1482C>T r.(?) p.(Cys494=)
+/. 5 c.1492C>T r.(?) p.(R498*)
+/. 5 c.1492C>T r.(?) p.(Arg498*)
-/. - c.1515T>C r.(?) p.(Asn505=)
+/. 5 c.1527del r.(?) p.(Ser510Valfs*2)
-/. 5 c.1558G>A r.(?) p.(Ala502Thr)
+?/. 5 c.1576del r.(?) p.(Arg526Glyfs*10)
?/. 5 c.1601G>T r.(?) p.(Gly534Val)
+?/. 5 c.1633del r.(?) p.(Thr545Argfs*10)
+?/. 5 c.1662_1663delinsC r.(?) p.(Ala555Glnfs*44)
+?/. 6 c.1667_1685del r.(?) p.(Asn556Thrfs*37)
-?/. - c.1685A>C r.(?) p.(Asn562Thr)
-/. - c.1690G>T r.(?) p.(Ala564Ser)
+/. 5 c.1727del r.(?) p.(Asn576ThrfsTer23)
+/. 5 c.1743del r.(?) p.(Glu581Aspfs*18)
-/. 5 c.1749G>A r.(?) p.(=)
-/. - c.1749G>A r.(?) p.(Glu583=)
-/. - c.1749G>A r.(?) p.(Glu583=)
-/- 5 c.1763A>C r.(?) p.(Asp588Ala)
-/. 5 c.1792T>C r.(?) p.(=)
-/. 5 c.1792T>C r.(?) p.(Leu598Leu)
+/. - c.1801A>T r.(?) p.(Lys601Ter)
+/. 5 c.1810C>T r.(?) p.(R604*)
+/+ 5 c.1810C>T r.(?) p.(R604*)
+/. 5 c.1810C>T r.(?) p.(R604*)
-/. - c.1811G>T r.(?) p.(Arg604Leu)
+/. - c.1824del r.(?) p.(Lys608Asnfs*12)
+/. - c.1831C>T r.(?) p.(Arg611*)
-/. 5 c.1840G>T r.(?) p.(V614L)
-/. - c.1840G>T r.(?) p.(Val614Leu)
-/. - c.1840G>T r.(?) p.(Val614Leu)
+/. - c.1845_1846del r.(?) p.(Cys615Trpfs*13)
+/. 5 c.1855del r.(?) p.(Val619Ter)
+/. - c.1893del r.(?) p.(Lys631Asnfs*22)
-?/. - c.1951C>T r.(?) p.(Pro651Ser)
-?/. - c.1980C>T r.(?) p.(Asn660=)
+?/. 6 c.1981_1982del r.(?) p.(Ser661Cysfs*3)
?/. - c.1982G>A r.(?) p.(Ser661Asn)
+/. - c.2007_2013del r.(?) p.(Phe669LeufsTer14)
-?/. - c.2031T>G r.(?) p.(Ser677=)
?/? 5 c.2032A>G r.(?) p.(Met678Val)
+/+ 5 c.2042dup r.(?) p.(Asn681fs)
+/. - c.2058T>A r.(?) p.(Tyr686*)
+/. - c.2058T>A r.(?) p.(Tyr686*)
-/. - c.2071G>A r.(?) p.(Ala691Thr)
-/. 5 c.2071G>A r.(?) p.(A691T)
-?/. - c.2071G>A r.(?) p.(Ala691Thr)
-?/. - c.2071G>A r.(?) p.(Ala691Thr)
-/. 5 c.2071G>A r.(?) p.(Ala691Thr)
-/. 5 c.2071G>A r.(?) p.(Ala691Thr)
-/. - c.2071G>A r.(?) p.(Ala691Thr)
-?/. - c.2071G>A r.(?) p.(Ala691Thr)
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6     Next › Last »