Transcript #00024208 (NM_001904.3, CTNNB1 gene)

Transcript name transcript variant 1
Gene name CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa)
Chromosome 3
Transcript - NCBI ID NM_001904.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001895.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

130 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.40A>G r.(?) p.(Met14Val)
+?/. - c.82C>T r.(?) p.(Gln28Ter)
+/. - c.99_100del r.(?) p.(Gly34Asnfs*15)
+/. 3 c.110C>A r.(?) p.(Ser37Tyr)
+?/. - c.110C>A r.(?) p.(Ser37Tyr)
./. - c.226C>G r.(?) p.(Gln76Glu)
+/. - c.268C>T r.(?) p.(Arg90Ter)
+/. - c.268C>T r.(?) p.(Arg90Ter)
+/. - c.274C>T r.(?) p.(Gln92*)
+/. - c.283C>T r.(?) p.(Arg95*)
+/. - c.283C>T r.(?) p.(Arg95Ter)
?/. - c.336_337insAA r.(?) p.(Gln113AsnfsTer21)
?/. - c.338A>T r.(?) p.(Gln113Leu)
?/. - c.341T>G r.(?) p.(Phe114Cys)
?/. - c.347_370del r.(?) p.(Ala116_Arg124delinsGly)
+/. - c.408del r.(?) p.(Val137*)
+/. - c.422_425del r.(?) p.(Asn141Ilefs*15)
+/. - c.423_424insG r.(?) p.(Tyr142Valfs*4)
?/. - c.451C>T r.(?) p.(Arg151Cys)
?/. - c.464A>G r.(?) p.(Glu155Gly)
-?/. - c.496-7A>T r.(=) p.(=)
?/. - c.521T>C r.(?) p.(Met174Thr)
?/. - c.527A>C r.(?) p.(His176Pro)
+/. - c.557_558del r.(?) p.(His186ArgfsTer21)
./. - c.605T>C r.(?) p.(Met202Thr)
+/. - c.607C>T r.(?) p.(Gln203Ter)
-?/. - c.633T>C r.(?) p.(Ala211=)
-?/. - c.642C>G r.(?) p.(Thr214=)
+?/. - c.659del r.(?) p.(Asn220ThrfsTer22)
+/. - c.705dup r.(?) p.(Gly236Argfs*35)
+/. - c.734+1G>A r.spl p.?
+/. - c.734+1G>A r.spl p.?
+/. - c.734+1G>T r.spl? p.?
+/. 6 c.755T>A r.(?) p.(Leu252*)
+/. - c.802_809del r.(?) p.(Gly268Asnfs*22)
+?/. - c.835del r.(?) p.(Leu279Cysfs*26)
./. - c.860A>G r.(?) p.(Asn287Ser)
-?/. - c.860A>G r.(?) p.(Asn287Ser)
-?/. - c.860A>G r.(?) p.(Asn287Ser)
?/. - c.884C>G r.(?) p.(Ala295Gly)
?/. - c.893C>G r.(?) p.(Thr298Arg)
+/. - c.925C>T r.925c>u p.Gln309*
+/. 7 c.998dup r.(?) p.(Tyr333*)
+/. - c.998dup r.(?) p.(Tyr333*)
+/. - c.998dup r.(?) p.(Tyr333Ter)
+/. - c.998dup r.(?) p.(Tyr333Ter)
+/. - c.998dup r.(?) p.Tyr333*
+/. - c.999C>G r.(?) p.(Tyr333*)
?/. - c.999C>G r.(?) p.(Tyr333Ter)
+/. - c.999C>G r.(?) p.(Tyr333Ter)
+/+ - c.999del r.(?) p.(Tyr333*)
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9)
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9)
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9)
+/. - c.1081G>C r.(?) p.(Gly361Arg)
+/. - c.1081+1G>C r.spl? p.?
+/. - c.1104del r.(?) p.(His369Thrfs*2)
+/. - c.1104del r.(?) p.(His369Thrfs*2)
./. - c.1117C>G r.(?) p.(Pro373Ala)
+?/. - c.1124_1125insCCTGAACAAG r.(?) p.(Gln375HisfsTer23)
?/. - c.1140C>G r.(?) p.(Asn380Lys)
?/. - c.1140C>G r.(?) p.(Asn380Lys)
+?/. - c.1148G>A r.(?) p.(Trp383*)
+/. - c.1163T>C r.(?) p.(Leu388Pro)
+/. - c.1184dup r.(?) p.(Glu396Glyfs*18)
+/. - c.1184_1185del r.(?) p.(Gln395Argfs*18)
+/. - c.1253_1254insGTGAC r.(?) p.(Cys419*)
+/. - c.1272_1275del r.272_1275del p.Ser425Thrfs*11
+/. - c.1272_1275del r.(?) p.(Ser425Thrfs*11)
+?/. - c.1272_1275del r.(?) p.(Ser425Thrfs*11)
?/. - c.1320A>G r.(?) p.(Gln440=)
+/. - c.1356_1357insA r.(?) p.(Arg453ThrfsTer4)
?/. - c.1367A>G r.(?) p.(Asp456Gly)
+/. 9 c.1405_1406insTG r.(?) p.(Arg469Leufs*4)
?/. - c.1417A>C r.(?) p.(Ser473Arg)
+/. - c.1420C>T r.(?) p.(Arg474*)
+/. - c.1420C>T r.(?) p.(Arg474*)
+/. - c.1420C>T r.(?) p.(Arg474*)
+/. - c.1420C>T r.(?) p.(Arg474Ter)
+/. - c.1434_1435insC r.(?) p.(Glu479Argfs*18)
+/. - c.1494dup r.(?) p.(His499Thrfs*31)
+/. - c.1543C>T r.(?) p.(Arg515Ter)
+/. - c.1543C>T r.(?) p.(Arg515*)
+/. - c.1543C>T r.(?) p.(Arg515*)
+/. - c.1603C>T r.(?) p.(Arg535*)
+/. 10 c.1603C>T r.(?) p.(Arg535*)
+?/. - c.1603C>T r.(?) p.(Arg535*)
+/. - c.1603C>T r.(?) p.(Arg535*)
+/. - c.1603C>T r.(?) p.(Arg535*)
+/. - c.1612C>T r.(?) p.(Gln538*)
+/. - c.1633C>T r.(?) p.(Gln545*)
-?/. - c.1671G>A r.(?) p.(Gln557=)
+/. - c.1672C>T r.(?) p.(Gln558*)
+/. - c.1683+1G>A r.spl? p.?
./. - c.1685_1690delinsA r.(?) p.(Glu562Aspfs*8)
+/. - c.1690dup r.(?) p.(Val564GlyfsTer8)
?/. 11 c.1690G>C r.(?) p.(Val564Leu)
?/. - c.1694G>T r.(?) p.(Arg565Leu)
+?/. - c.1723G>A r.(?) p.(Gly575Arg)
./. - c.1729C>G r.(?) p.(Leu577Val)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »