Transcript #00010103 (NM_001023570.2, IQCB1 gene)

Transcript name transcript variant 1
Gene name IQCB1 (IQ motif containing B1)
Chromosome 3
Transcript - NCBI ID NM_001023570.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018864.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.? p.?
+/. - c.? r.? p.?
+/. - c.? r.? p.?
-/. - c.-193T>C r.(?) p.(=)
?/. - c.-102+5C>A r.spl? p.?
-?/. - c.162T>C r.(?) p.(Tyr54=)
+/. - c.214C>T r.(?) p.(Arg72*)
+/. - c.214C>T r.(?) p.(Arg72*)
+?/. - c.214C>T r.(?) p.(Arg72*)
+?/. - c.214C>T r.(?) p.(Arg72*)
+/. - c.260T>G r.(?) p.(Leu87*)
+/. - c.273dup r.(?) p.(Val92CysfsTer15)
-?/. - c.388G>A r.(?) p.(Ala130Thr)
-/. - c.393+15A>G r.(=) p.(=)
+/. - c.394-1G>A r.spl p.?
-/. - c.424T>C r.(?) p.(Phe142Leu)
+?/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. - c.424_425del r.(?) p.(Phe142Profs*5)
+/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. 6 c.424_425del r.(?) p.(Phe142Profs*5)
+/. - c.424_425del r.(?) p.(Phe142Profs*5)
+/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. - c.424_425del r.(?) p.(Phe142ProfsTer5)
+?/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. - c.424_425del r.(?) p.(Phe142Profs*5)
+?/. - c.479_482del r.(?) p.(Ile160Argfs*20)
-?/. - c.482A>G r.(?) p.(Gln161Arg)
+?/. - c.488-1G>A r.spl p.(?)
+?/. - c.493C>T r.(?) p.(Gln165*)
-/. - c.574C>T r.(?) p.(Leu192=)
-/. - c.574C>T r.(?) p.(Leu192=)
-/. - c.587+38del r.(=) p.(=)
-/. - c.588-16del r.(=) p.(=)
-?/. - c.588T>C r.(?) p.(Ser196=)
-/. - c.588T>C r.(?) p.(Ser196=)
-?/. - c.588T>C r.(?) p.(Ser196=)
-?/. - c.588T>C r.(?) p.(Ser196=)
?/. - c.658T>A r.(?) p.(Ser220Thr)
+?/. 8 c.686del r.(?) p.(Thr229Metfs*8)
+/. - c.700_701del r.(?) p.(Leu234ThrfsTer5)
?/. - c.708G>C r.(?) p.(Leu236Phe)
-/. - c.767-263_767-262del r.(=) p.(=)
-/. - c.767-262del r.(=) p.(=)
-/. - c.767-260_767-259del r.(=) p.(=)
-/. - c.767-227_767-226del r.(=) p.(=)
?/. - c.772del r.(?) p.(Arg258Aspfs*4)
?/. - c.775C>T r.(?) p.(Arg259Cys)
-?/. - c.776G>A r.(?) p.(Arg259His)
-?/. - c.782T>G r.(?) p.(Leu261Arg)
-?/. - c.782T>G r.(?) p.(Leu261Arg)
+/. - c.817G>T r.(?) p.(Glu273*)
+/. - c.876+1G>A r.spl p.(?)
+?/. - c.876+1G>T r.spl p.?
-?/. - c.876+19A>G r.(=) p.(=)
-/. - c.877-46dup r.(=) p.(=)
-/. - c.877-43del r.(=) p.(=)
?/. - c.877-10G>A r.(=) p.(=)
+/. - c.897_900dup r.(?) p.(Ile301Leufs*42)
?/. - c.904C>G r.(?) p.(Gln302Glu)
?/. - c.958G>A r.(?) p.(Ala320Thr)
?/. - c.962T>A r.(?) p.(Val321Glu)
-?/. - c.986+5A>C r.spl? p.?
+?/. 11 c.994C>T r.(?) p.(Arg332*)
+/. - c.994C>T r.(?) p.(Arg332Ter)
+/. - c.994C>T r.(?) p.(Arg332*)
+/. - c.994C>T r.(?) p.(Arg332Ter)
+/. - c.994C>T r.(?) p.(Arg332*)
+?/. - c.1036G>T r.(?) p.(Glu346*)
+/. - c.1036G>T r.(?) p.(Glu346*)
+/. - c.1036G>T r.(?) p.(Glu346*)
+?/. - c.1036G>T r.(?) p.(Glu346*)
+/. - c.1072_1075del r.(?) p.(Arg358Profs*2)
+?/. 11 c.1090C>T r.(?) p.(Arg364*)
+?/. - c.1090C>T r.(?) p.(Arg364*)
+?/. - c.1090C>T r.(?) p.(Arg364*)
?/. - c.1090C>T r.(?) p.(Arg364Ter)
+?/. - c.1090C>T r.(?) p.(Arg364*)
+?/. - c.1090C>T r.(?) p.(Arg364*)
+/. 11 c.1090C>T r.(?) p.(Arg364*)
+/. - c.1090C>T r.(?) p.(Arg364Ter)
+?/. - c.1090C>T r.(?) p.(Arg364*)
+/. 11 c.1108dup r.(?) p.(Met370Asnfs*49)
+/. - c.1108dup r.(?) p.(Met370Asnfs*49)
?/. - c.1123C>A r.(?) p.(His375Asn)
-?/. - c.1128A>C r.(?) p.(Pro376=)
?/. 11i c.1130-1G>C r.spl? p.?
+/. 11i c.1130-1G>C r.spl? p.?
+/. 11i c.1130-1G>C r.spl? p.?
-/. - c.1178T>A r.(?) p.(Ile393Asn)
-/. - c.1178T>A r.(?) p.(Ile393Asn)
-/. - c.1178T>A r.(?) p.(Ile393Asn)
+?/. - c.1225C>T r.(?) p.(Gln409*)
+?/. - c.1241_1242del r.(?) p.(Leu414HisfsTer4)
+/. - c.1244_1245del r.(?) p.(Ile415Argfs*3)
?/. - c.1250A>G r.(?) p.(Tyr417Cys)
+/. 12 c.1271A>G r.(?) p.(Gln424Arg)
+/. - c.1278+1G>A r.spl? p.?
+/. 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2
+/. 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2
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