Transcript #00000280

Transcript name cubilin (intrinsic factor-cobalamin receptor)
Gene name CUBN (cubilin (intrinsic factor-cobalamin receptor))
Chromosome 10
Transcript - NCBI ID NM_001081.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001072.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

141 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 01-28 c.(?_-52)_4018+?del r.? p.?
+/+ 01-25 c.(?_-52)_(*1009_?)del r.0 p.0
-/. - c.123-16C>G r.(=) p.(=)
-?/. - c.196G>A r.(?) p.(Gly66Arg)
+/+ 02 c.250C>T r.(250c>u) p.(Gln84*)
+?/+? 02i c.252+1G>A r.spl? p.?
+?/+? 05 c.434G>A r.(434g>a) p.(Gly145Glu)
+/+ 05 c.489G>A r.489_490ins137 p.Gly164fs
+/. - c.591C>G r.(?) p.(Tyr197Ter)
-/. - c.593+21del r.(=) p.(=)
+?/+? 07 c.673T>A r.(673u>a) p.(Cys225Ser)
-?/. - c.736G>A r.(?) p.(Val246Ile)
-/. - c.758T>C r.(?) p.(Phe253Ser)
+/+ 09 c.889C>T r.(889c>u) p.(Gln297*)
-/. - c.1003G>A r.(?) p.(Ala335Thr)
+?/+? 09 c.1010C>T r.(1010c>u) p.(Pro337Leu)
?/. - c.1088A>G r.(?) p.(Asp363Gly)
-/. - c.1165C>A r.(?) p.(Pro389Thr)
+?/+? 11i c.1230+1G>A r.spl? p.?
-?/. - c.1236T>C r.(?) p.(Thr412=)
+/+ 13 c.1436C>G r.(1436c>g) p.(Ser479*)
-?/. - c.1470G>A r.(?) p.(Pro490=)
+/+ 13 c.1526del r.(?) p.(Gly509Glufs*13)
+/+ 13 c.1530G>A r.1418_1530del p.Val473Glyfs*26
?/. - c.1537C>T r.(?) p.(Arg513Cys)
?/. - c.1558C>T r.(?) p.(Arg520Trp)
?/. - c.1780C>G r.(?) p.(Leu594Val)
+/+ 15 c.1838del r.(?) p.(Gly613Glufs*9)
+/+ 15 c.1865del r.(?) p.(Thr622Ilefs*7)
+?/+? 16 c.1951C>G r.(1951c>g) p.(Arg651Gly)
+/+ 16 c.1951C>T r.(1951C>T) p.(Arg651*)
?/? 16 c.2068A>G r.(2068a>g) p.(Ile690Val)
-/. - c.2445C>T r.(?) p.(Val815=)
+?/+? 19 c.2486C>T r.(2486c>u) p.(Ser829Leu)
-/. - c.2487G>A r.(?) p.(Ser829=)
+/+ 19 c.2515_2533del r.(?) p.(Glu839Profs*55)
-/. - c.2594G>A r.(?) p.(Ser865Asn)
+?/+? 19 c.2594G>A r.(2594g>a) p.(Ser865Asn)
+/+ 19 c.2614_2615del r.(?) p.(Asp872Leufs*3)
?/. - c.2625G>T r.(?) p.(Glu875Asp)
+/+ 20 c.2673C>A r.(2673c>a) p.(Cys891*)
?/. - c.2738G>C r.(?) p.(Ser913Thr)
-?/. - c.2756A>G r.(?) p.(His919Arg)
-/. - c.2791+9C>T r.(=) p.(=)
?/. - c.2840G>A r.(?) p.(Gly947Asp)
+/+ 21 c.2949C>A r.(2949c>a) p.(Tyr983*)
+/+ 22 c.3056C>G r.(3056c>g) p.(Ser1019*)
+/+ 22 c.3096del r.(?) p.(Tyr1032*)
?/. - c.3211A>G r.(?) p.(Asn1071Asp)
-?/. - c.3282C>T r.(?) p.(Ser1094=)
-/. - c.3292G>T r.(?) p.(Ala1098Ser)
+/+ 23i c.3330-439C>G r.[3329_3330ins66, 3329_3330ins125] p.0
-?/. - c.3354A>G r.(?) p.(Pro1118=)
?/. - c.3374G>T r.(?) p.(Gly1125Val)
+?/+? 25 c.3577T>G r.(3577u>g) p.(Trp1193Gly)
-?/. - c.3604G>A r.(?) p.(Ala1202Thr)
?/. - c.3630T>G r.(?) p.(Phe1210Leu)
+?/+? 26 c.3749C>T r.(3749c>u) p.(Ser1250Phe)
+/+ 27 c.3890C>T r.(3890c>u) p.(Pro1297Leu)
+/+ 27 c.3999C>A r.(3999c>a) p.(Cys1333*)
?/. - c.4031C>G r.(?) p.(Pro1344Arg)
-?/. - c.4058T>A r.(?) p.(Val1353Glu)
+?/+? 28 c.4115C>G r.(4115c>g) p.(Thr1372Arg)
+/. - c.4165del r.(?) p.(Tyr1389ThrfsTer74)
+?/+? 28 c.4168G>A r.(4168g>a) p.(Gly1390Ser)
-?/. - c.4200C>T r.(?) p.(Gly1400=)
-/. - c.4563T>A r.(?) p.(Ile1521=)
-/. - c.4675C>T r.(?) p.(Pro1559Ser)
?/. - c.4964C>G r.(?) p.(Pro1655Arg)
-/. - c.5134C>T r.(=) p.(=)
-/. - c.5134C>T r.(=) p.(=)
-?/. - c.5196C>T r.(?) p.(Thr1732=)
-/. - c.5207C>T r.(?) p.(Ser1736Leu)
-?/. - c.5323C>T r.(?) p.(Arg1775Trp)
-?/. - c.5412G>T r.(?) p.(Thr1804=)
+/. - c.5428C>T r.(?) p.(Arg1810Ter)
-/. - c.5518G>A r.(?) p.(Gly1840Ser)
-/. - c.5518G>A r.(?) p.(Gly1840Ser)
-/. - c.5518G>A r.(?) p.(Gly1840Ser)
-?/. - c.5522C>T r.(?) p.(Thr1841Met)
?/. - c.5626T>G r.(?) p.(Ser1876Ala)
-?/. - c.5680A>G r.(?) p.(Ile1894Val)
?/. - c.5759C>T r.(?) p.(Ala1920Val)
-/. - c.5803A>G r.(?) p.(Ser1935Gly)
?/. - c.5840C>A r.(?) p.(Ser1947Tyr)
-/. - c.5856A>G r.(?) p.(Ser1952=)
-/. - c.5911C>A r.(?) p.(Pro1971Thr)
-/. - c.5911C>A r.(?) p.(Pro1971Thr)
-?/. - c.5924C>T r.(?) p.(Pro1975Leu)
?/. - c.5926+5G>A r.spl? p.?
?/. - c.6095G>A r.(?) p.(Cys2032Tyr)
-/. - c.6124+8C>T r.(=) p.(=)
-?/. - c.6142C>G r.(?) p.(Gln2048Glu)
?/. - c.6364G>A r.(?) p.(Val2122Ile)
?/. 43 c.6479A>G r.(?) p.(Asp2160Gly)
-/. - c.6485G>A r.(?) p.(Cys2162Tyr)
-?/. - c.6661G>A r.(?) p.(Val2221Ile)
-?/. - c.6822-6C>T r.(=) p.(=)
-/. - c.6924A>T r.(?) p.(Ser2308=)
+/. - c.6928_6934del r.(?) p.(Glu2310CysfsTer3)
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