Transcript #00011982 (NM_002397.4, MEF2C gene)

Transcript name transcript variant 1
Gene name MEF2C (myocyte enhancer factor 2C)
Chromosome 5
Transcript - NCBI ID NM_002397.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002388.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_1i c.(-420000_-403871)_(-143+9022_-142-1)del r.0? p.0?
+/. - c.-21293_-142-22763delinsC r.0? p.?
+?/. - c.2T>A r.(?) p.(Met1?)
+/. - c.2T>C r.(?) p.(Met1?)
+?/. - c.5G>A r.(?) p.(Gly2Glu)
?/. - c.40G>A r.(?) p.(Glu14Lys)
+?/. - c.45dup r.(?) p.(Asn16LysfsTer19)
?/. - c.53A>G r.(?) p.(Gln18Arg)
-?/. - c.54+13A>T r.(=) p.(=)
+/. - c.80G>C r.(?) p.(Gly27Ala)
+?/. - c.104T>C r.(?) p.(Leu35Pro)
+/. - c.113T>A r.(?) p.(Leu38Gln)
+/. - c.113T>C r.(?) p.(Leu38Pro)
+/. - c.115T>C r.(?) p.(Cys39Arg)
+/. - c.123_124del r.(?) p.(Cys41*)
+?/. - c.258G>A r.(?) p.(Glu86=)
-?/. - c.309G>A r.(?) p.(Ala103=)
-?/. - c.363C>T r.(?) p.(Asn121=)
+?/. - c.401_402+2del r.spl? p.?
+/. - c.471C>G r.(?) p.(Tyr157*)
./. - c.498_502delinsA r.(?) p.(Asn166Lysfs*20)
-?/. - c.508T>C r.(?) p.(Leu170=)
+/. - c.658C>T r.(?) p.(Arg220Ter)
+/. - c.683C>G r.(?) p.(Ser228Ter)
+/. - c.766C>T r.(?) p.(Arg256*)
-?/. - c.798G>A r.(?) p.(Thr266=)
-?/. - c.798G>A r.(?) p.(Thr266=)
-?/. - c.811-12G>A r.(=) p.(=)
-/. - c.834+181_834+182del r.(=) p.(=)
-/. - c.834+182del r.(=) p.(=)
-/. - c.835-128A>G r.(=) p.(=)
-?/. - c.835-10_835-7del r.(=) p.(=)
+/. - c.835-2A>G r.spl? p.?
+/. - c.965-2A>G r.spl? p.?
+?/. - c.973_974del r.(?) p.(Leu325Glufs*2)
?/. - c.994T>C r.(?) p.(Ser332Pro)
-?/. - c.1119T>C r.(?) p.(His373=)
+/. - c.(1421G>C) r.(?) *464Sext*?
-?/. - c.*32del r.(?) p.(=)
-/. - c.*105A>G r.(=) p.(=)
-/. - c.*115del r.(?) p.(=)
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