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

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ 01-25 c.(?_-52)_(*1009_?)del - r.0 p.0
+/+ 01-28 c.(?_-52)_4018+?del - r.? p.?
+/+ 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
+?/+? 07 c.673T>A - r.(673u>a) p.(Cys225Ser)
+/+ 09 c.889C>T - r.(889c>u) p.(Gln297*)
+?/+? 09 c.1010C>T - r.(1010c>u) p.(Pro337Leu)
+?/+? 11i c.1230+1G>A - r.spl? p.?
+/+ 13 c.1436C>G - r.(1436c>g) p.(Ser479*)
+/+ 13 c.1526delG - r.(1526delg) p.(Gly509Glufs*13)
+/+ 13 c.1530G>A - r.1418_1530del p.Val473Glyfs*26
+/+ 15 c.1838delG - r.(1838delg) p.(Gly613Glufs*9)
+/+ 15 c.1865delC - r.(1865delc) 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)
+?/+? 19 c.2486C>T - r.(2486c>u) p.(Ser829Leu)
+/+ 19 c.2515_2533del - r.(?) p.(Glu839Profs*55)
+?/+? 19 c.2594G>A - r.(2594g>a) p.(Ser865Asn)
+/+ 19 c.2614_2615delGA - r.(2614_2615delga) p.(Asp872Leufs*3)
+/+ 20 c.2673C>A - r.(2673c>a) p.(Cys891*)
+/+ 21 c.2949C>A - r.(2949c>a) p.(Tyr983*)
+/+ 22 c.3056C>G - r.(3056c>g) p.(Ser1019*)
+/+ 22 c.3096delT - r.(3096delu) p.(Tyr1032*)
+/+ 23i c.3330-439C>G - r.[3329_3330ins66, 3329_3330ins125] p.0
+/+ 23i c.3330-439C>G - r.spl? p.?
+?/+? 25 c.3577T>G - r.(3577u>g) p.(Trp1193Gly)
+?/+? 26 c.3749C>T - r.(3749c>u) p.(Ser1250Phe)
+/+ 27 c.3890C>T - r.(3890c>u) p.(Pro1297Leu)
+?/+? 27 c.3890C>T - r.(3890c>u) p.(Pro1297Leu)
+/+ 27 c.3999C>A - r.(3999c>a) p.(Cys1333*)
+?/+? 28 c.4115C>G - r.(4115c>g) p.(Thr1372Arg)
+?/+? 28 c.4168G>A - r.(4168g>a) p.(Gly1390Ser)
?/. 43 c.6479A>G - r.(?) p.(Asp2160Gly)
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