Transcript #00007173 (NM_001018041.1, EPM2A gene)

Transcript name transcript variant 2
Gene name EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin))
Chromosome 6
Transcript - NCBI ID NM_001018041.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018051.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-47G>A r.(?) p.(=)
+?/. 3 c.? r.? p.?
+?/. 4 c.? r.? p.?
+?/. - c.88G>A r.(?) p.(Gly30Arg)
+/. - c.94T>G r.(?) p.(Trp32Gly)
-/. - c.159C>G r.(?) p.(Ala53=)
-/. - c.159C>G r.(?) p.(Ala53=)
-/. - c.159C>G r.(?) p.(Ala53=)
-?/. - c.163C>A r.(?) p.(Gln55Lys)
-?/. - c.163C>A r.(?) p.(Gln55Lys)
?/. - c.163C>A r.(?) p.(Gln55Lys)
+/. 1 c.243_246del r.(?) p.(Asp82Argfs*7)
-?/. - c.301+5T>C r.spl? p.?
-/. - c.302-19720C>T r.(=) p.(=)
-/. - c.302-19652A>T r.(=) p.(=)
./. - c.314A>G r.(?) p.(His105Arg)
?/. - c.323G>A r.(?) p.(Arg108His)
-?/. - c.376A>G r.(?) p.(Ile126Val)
-?/. - c.393G>A r.(?) p.(Glu131=)
-/. - c.402G>A r.(?) p.(Gly134=)
-/. - c.402G>A r.(?) p.(Gly134=)
-/. - c.476+92C>T r.(=) p.(=)
?/. - c.495G>A r.(?) p.(Trp165Ter)
+/. - c.508C>T r.(?) p.(Pro170Ser)
-?/. - c.568A>T r.(?) p.(Met190Leu)
-?/. - c.680C>T r.(?) p.(Ala227Val)
-?/. - c.681C>T r.(?) p.(Ala227=)
./. - c.690G>T r.(?) p.(Trp230Cys)
-?/. - c.718+62G>A r.(=) p.(=)
-/. - c.718+62_718+65del r.(=) p.(=)
-/. - c.718+62_718+65del r.(=) p.(=)
-?/. - c.719-4G>A r.spl? p.?
-?/. - c.719-4G>A r.spl? p.?
+?/. - c.721C>T r.(?) p.(Arg241Ter)
+/. 4 c.721C>T r.(?) p.(Arg241*)
+/. - c.721C>T r.(?) p.(Arg241Ter)
+/. 4 c.721C>T r.(?) p.(Arg241*)
+/. 4 c.721C>T r.(?) p.(Arg241*)
+/. 4 c.721C>T r.(?) p.(Arg241*)
./. - c.736C>T r.(?) p.(Pro246Ser)
./. - c.736C>T r.(?) p.(Pro246Ser)
-?/. - c.849T>C r.(?) p.(Tyr283=)
+/. - c.859T>C r.(?) p.(Trp287Arg)
-/. - c.900G>A r.(?) p.(Arg300=)
-/. - c.*249T>C r.(=) p.(=)
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