Transcript #00004411 (NM_005188.3, CBL gene)

Transcript name Cbl proto-oncogene, E3 ubiquitin protein ligase
Gene name CBL (Cbl proto-oncogene, E3 ubiquitin protein ligase)
Chromosome 11
Transcript - NCBI ID NM_005188.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005179.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

121 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-39_-35dup r.(?) p.(=)
?/. - c.18G>T r.(?) p.(Lys6Asn)
-?/. - c.51C>T r.(?) p.(Ser17=)
-?/. - c.122_127dup r.(?) p.(His41_His42dup)
-?/. - c.122_127dup r.(?) p.(His41_His42dup)
-/. - c.125_127del r.(?) p.(His42del)
-/. - c.125_127del r.(?) p.(His42del)
-?/. - c.125_127dup r.(?) p.(His42dup)
-?/. - c.125_127dup r.(?) p.(His42dup)
?/. - c.196-2A>T r.spl? p.?
-?/. - c.223C>G r.(?) p.(Leu75Val)
?/. - c.286C>T r.(?) p.(Arg96Cys)
?/. - c.287G>A r.(?) p.(Arg96His)
-?/. - c.292A>G r.(?) p.(Ile98Val)
-?/. - c.477C>T r.(?) p.(Ser159=)
-/. - c.513T>C r.(?) p.(Ser171=)
-/. - c.513T>C r.(?) p.(Ser171=)
-/. - c.513T>C r.(?) p.(Ser171=)
?/. - c.578C>T r.(?) p.(Ala193Val)
-?/. - c.591-17C>T r.(=) p.(=)
?/. - c.616C>T r.(?) p.(Arg206Ter)
-/. - c.819G>A r.(?) p.(Thr273=)
-/. - c.869+4A>G r.spl? p.?
-/. - c.869+4A>G r.spl? p.?
-?/. - c.869+15G>A r.(=) p.(=)
-?/. - c.869+15G>A r.(=) p.(=)
?/. - c.881G>T r.(?) p.(Arg294Leu)
-/. - c.1095+19G>T r.(=) p.(=)
-/. - c.1095+19G>T r.(=) p.(=)
./. - c.1096-2A>T r.spl? p.?
+?/. - c.1096G>A r.(?) p.(Glu366Lys)
+?/? ? c.1100A>C r.(?) p.(Gln367Pro)
+/. - c.1111T>A r.(?) p.(Tyr371Asn)
+/. - c.1111T>C r.(?) p.(Tyr371His)
+?/. - c.1112_1114del r.(?) p.(Tyr371del)
?/. - c.1127C>T r.(?) p.(Ser376Phe)
+?/? ? c.1144A>G r.(?) p.(Lys382Glu)
?/. - c.1150T>C r.(?) p.(Cys384Arg)
?/. - c.1156G>A r.(?) p.(Glu386Lys)
?/. - c.1160A>G r.(?) p.(Asn387Ser)
+?/? ? c.1168G>T r.(?) p.(Asp390Tyr)
?/. - c.1190G>A r.(?) p.(Gly397Glu)
-?/. - c.1211G>A r.(?) p.(Cys404Tyr)
+?/. - c.1227+2T>C r.spl? p.?
-?/. - c.1227+4C>T r.spl? p.?
-?/. - c.1227+4C>T r.spl? p.?
-?/. - c.1227+4C>T r.spl? p.?
-/. - c.1227+4C>T r.spl? p.?
+?/. - c.1227+5_1227+8del r.spl? p.?
-?/. - c.1227+17C>G r.(=) p.(=)
-?/. - c.1227+20dup r.(=) p.(=)
-?/. - c.1227+20dup r.(=) p.(=)
-?/. - c.1227+20dup r.(=) p.(=)
+/. - c.1228-2A>G r.spl? p.?
-?/. - c.1248T>C r.(?) p.(Cys416=)
+?/? ? c.1259G>A r.(?) p.(Arg420Gln)
-?/. - c.1260A>G r.(?) p.(Arg420=)
-?/. - c.1324C>A r.(?) p.(Leu442Met)
-/. - c.1359A>C r.(?) p.(Pro453=)
-?/. - c.1359A>C r.(?) p.(Pro453=)
?/. - c.1360A>G r.(?) p.(Asn454Asp)
-?/. - c.1380_1382dup r.(?) p.(Asp460dup)
-?/. - c.1468C>G r.(?) p.(Gln490Glu)
?/. - c.1480C>G r.(?) p.(Pro494Ala)
-/. - c.1485G>A r.(?) p.(Pro495=)
-/. - c.1485G>A r.(?) p.(Pro495=)
-/. - c.1485G>A r.(?) p.(Pro495=)
-/. - c.1485G>A r.(?) p.(Pro495=)
-/. - c.1564-13C>T r.(=) p.(=)
?/. - c.1577C>G r.(?) p.(Ser526Cys)
?/. - c.1598T>G r.(?) p.(Leu533Trp)
-?/. - c.1634C>T r.(?) p.(Pro545Leu)
-?/. - c.1641T>C r.(?) p.(Pro547=)
-/. - c.1641T>C r.(?) p.(Pro547=)
-?/. - c.1647C>A r.(?) p.(Asp549Glu)
?/. - c.1649G>A r.(?) p.(Arg550Gln)
?/. - c.1649G>A r.(?) p.(Arg550Gln)
?/. - c.1649G>A r.(?) p.(Arg550Gln)
?/. - c.1703C>T r.(?) p.(Thr568Ile)
-/. - c.1858C>T r.(?) p.(Leu620Phe)
-?/. - c.1858C>T r.(?) p.(Leu620Phe)
-?/. - c.1858C>T r.(?) p.(Leu620Phe)
-/. - c.1858C>T r.(?) p.(Leu620Phe)
-?/. - c.1910T>A r.(?) p.(Leu637His)
?/. - c.1997C>T r.(?) p.(Pro666Leu)
-?/. - c.2036+9G>T r.(=) p.(=)
-/. - c.2060C>T r.(?) p.(Pro687Leu)
-?/. - c.2060C>T r.(?) p.(Pro687Leu)
-?/. - c.2190G>C r.(?) p.(Thr730=)
-?/. - c.2190G>C r.(?) p.(Thr730=)
-?/. - c.2190G>C r.(?) p.(Thr730=)
-?/. - c.2216C>T r.(?) p.(Ser739Phe)
-/. - c.2222C>T r.(?) p.(Ala741Val)
-?/. - c.2251+14del r.(=) p.(=)
-?/. - c.2262T>G r.(?) p.(Asn754Lys)
-?/. - c.2262T>G r.(?) p.(Asn754Lys)
-/. - c.2269G>A r.(?) p.(Ala757Thr)
-?/. - c.2269G>A r.(?) p.(Ala757Thr)
-?/. - c.2269G>A r.(?) p.(Ala757Thr)
-?/. - c.2269G>A r.(?) p.(Ala757Thr)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »