Transcript #00007150 (NM_002354.2, EPCAM gene)

Transcript name epithelial cell adhesion molecule
Gene name EPCAM (epithelial cell adhesion molecule)
Chromosome 2
Transcript - NCBI ID NM_002354.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002345.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

538 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 7i_9_ c.? r.? p.?
+/. _7_9_ c.? r.? p.?
+/. _7_9_ c.? r.? p.?
+/. _7_9_ c.? r.? p.?
+/. - unspecified deletion r.? p.?
+/. - unspecified deletion r.? p.?
+/. - unspecified deletion r.? p.?
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0
+/. _1_7i c.(?_-1)_(858+1_859-1)del r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_9_ c.(_-1)_(*415_?)del r.? p.?
+/. 7i_9_ c.? r.? p.?
+/. 1 c.1A>C r.(?) p.0?
+/. - c.13C>T r.(?) p.(Gln5Ter)
+/. 1 c.38_62dup r.(?) p.(Ala22Cysfs*17)
+/. 1 c.48_68del r.(?) p.(Thr17_Ala23del)
-?/. - c.77-11del r.(=) p.(=)
-/. - c.77-11T>A r.(=) p.(=)
?/. - c.77-1G>C r.spl? p.?
+/. 1i_5i c.(76+1_77-1)_(555+1_556-1)del r.? p.?
?/. - c.79T>C r.(?) p.(Cys27Arg)
?/. - c.80G>A r.(?) p.(Cys27Tyr)
?/. - c.82G>A r.(?) p.(Val28Ile)
?/. - c.83T>C r.(?) p.(Val28Ala)
?/. - c.88G>A r.(?) p.(Glu30Lys)
?/. - c.88_89delinsT r.(?) p.(Glu30*)
?/. - c.89A>G r.(?) p.(Glu30Gly)
?/. - c.93C>G r.(?) p.(Asn31Lys)
?/. - c.93C>G r.(?) p.(Asn31Lys)
?/. - c.94T>C r.(?) p.(Tyr32His)
+?/. - c.96C>A r.(?) p.(Tyr32*)
?/. - c.97A>C r.(?) p.(Lys33Gln)
?/. - c.101T>C r.(?) p.(Leu34Pro)
?/. - c.106G>A r.(?) p.(Val36Ile)
?/. - c.106G>A r.(?) p.(Val36Ile)
?/. - c.110A>T r.(?) p.(Asn37Ile)
?/. - c.111C>G r.(?) p.(Asn37Lys)
?/. - c.111C>G r.(?) p.(Asn37Lys)
+/. 2 c.113G>A r.(?) p.(Cys38Tyr)
?/. - c.131G>A r.(?) p.(Arg44His)
?/. - c.131G>T r.(?) p.(Arg44Leu)
?/. - c.133C>T r.(?) p.(Gln45*)
?/. - c.134A>T r.(?) p.(Gln45Leu)
?/. - c.134A>T r.(?) p.(Gln45Leu)
+/. 2 c.139C>T r.(?) p.0?
?/. - c.139del r.(?) p.(Gln47Serfs*22)
?/. - c.140A>G r.(?) p.(Gln47Arg)
?/. - c.141G>C r.(?) p.(Gln47His)
?/. - c.146C>G r.(?) p.(Thr49Ser)
?/. - c.148T>A r.(?) p.(Ser50Thr)
?/. - c.148T>A r.(?) p.(Ser50Thr)
?/. - c.149C>T r.(?) p.(Ser50Leu)
?/. - c.151G>A r.(?) p.(Val51Ile)
?/. - c.161A>G r.(?) p.(Gln54Arg)
?/. - c.161A>G r.(?) p.(Gln54Arg)
-?/. - c.171C>A r.(?) p.(Val57=)
?/. - c.172A>T r.(?) p.(Ile58Phe)
?/. - c.179C>T r.(?) p.(Ser60Leu)
?/. - c.179C>T r.(?) p.(Ser60Leu)
?/. - c.181A>G r.(?) p.(Lys61Glu)
?/. - c.184+1G>T r.spl? p.?
?/. - c.184+1G>T r.spl? p.?
+/. _3_9_ c.(?_185-1)_(*415_?)del r.? p.?
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.?
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.?
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.?
?/. - c.187G>C r.(?) p.(Ala63Pro)
?/. - c.187G>C r.(?) p.(Ala63Pro)
?/. - c.188C>G r.(?) p.(Ala63Gly)
?/. - c.194A>G r.(?) p.(Lys65Arg)
+/. 3 c.197G>A r.(?) p.(Cys66Tyr)
?/. - c.205A>G r.(?) p.(Met69Val)
?/. - c.205A>G r.(?) p.(Met69Val)
?/. - c.212C>T r.(?) p.(Ala71Val)
?/. - c.224G>A r.(?) p.(Gly75Asp)
?/. - c.224G>A r.(?) p.(Gly75Asp)
+/. - c.227C>G r.(?) p.(Ser76*)
+/. 3 c.227C>G r.(?) p.(Ser76*)
+/. 3 c.227C>G r.(?) p.(Ser76*)
+/. 3 c.227C>G r.(?) p.(Ser76*)
?/. - c.232C>G r.(?) p.(Leu78Val)
?/. - c.232C>G r.(?) p.(Leu78Val)
?/. - c.233T>G r.(?) p.(Leu78Arg)
?/. - c.233T>G r.(?) p.(Leu78Arg)
?/. - c.235G>A r.(?) p.(Gly79Arg)
?/. - c.236G>A r.(?) p.(Gly79Glu)
?/. - c.242G>A r.(?) p.(Arg81Lys)
?/. - c.245C>T r.(?) p.(Ala82Val)
?/. - c.250C>G r.(?) p.(Pro84Ala)
?/. - c.250C>T r.(?) p.(Pro84Ser)
?/. - c.250C>T r.(?) p.(Pro84Ser)
?/. - c.251C>G r.(?) p.(Pro84Arg)
?/. - c.251C>T r.(?) p.(Pro84Leu)
?/. - c.251C>T r.(?) p.(Pro84Leu)
?/. - c.254A>G r.(?) p.(Glu85Gly)
?/. - c.255A>T r.(?) p.(Glu85Asp)
?/. - c.255A>T r.(?) p.(Glu85Asp)
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