Transcript #00006367 (NM_003647.2, DGKE gene)

Transcript name diacylglycerol kinase, epsilon 64kDa
Gene name DGKE (diacylglycerol kinase, epsilon 64kDa)
Chromosome 17
Transcript - NCBI ID NM_003647.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003638.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-13G>A r.(?) p.(=)
-?/. - c.35C>T r.(?) p.(Pro12Leu)
-/. - c.35C>T r.(?) p.(Pro12Leu)
-?/. - c.59G>A r.(?) p.(Gly20Glu)
-?/. - c.129G>A r.(?) p.(Gln43=)
-?/. - c.129G>A r.(?) p.(Gln43=)
+?/. 2 c.171del r.(?) p.(Ser58Alafs*111)
+?/. - c.178C>G r.(?) p.(His60Asp)
-/. - c.183G>A r.(?) p.(Gly61=)
-?/. - c.235C>G r.(?) p.(Gln79Glu)
?/. - c.465-3C>T r.spl? p.?
?/. - c.465-3C>T r.spl? p.?
+/. - c.494A>G r.(?) p.(Asp165Gly)
-/. - c.579A>C r.(?) p.(Thr193=)
-/. - c.579A>C r.(?) p.(Thr193=)
?/. - c.654C>T r.(?) p.(Thr218=)
-?/. - c.744+17del r.(=) p.(=)
-?/. - c.798T>A r.(?) p.(Leu266=)
?/. - c.851G>A r.(?) p.(Gly284Glu)
?/. - c.851G>A r.(?) p.(Gly284Glu)
-/. - c.888+67_888+70dup r.(=) p.(=)
-/. - c.888+69_888+70dup r.(=) p.(=)
+?/. 6 c.966G>A r.(?) p.(Trp322*)
?/. - c.1154A>G r.(?) p.(Asn385Ser)
?/. - c.1291C>G r.(?) p.(Leu431Val)
+/. - c.1353C>A r.(?) p.(Tyr451Ter)
-?/. - c.1406T>C r.(?) p.(Leu469Pro)
-?/. - c.1525-15G>A r.(=) p.(=)
-?/. - c.1679A>G r.(?) p.(Gln560Arg)
-?/. - c.1679A>G r.(?) p.(Gln560Arg)
-?/. - c.1679A>G r.(?) p.(Gln560Arg)
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