Transcript #00006966 (NM_004836.5, EIF2AK3 gene)

Transcript name eukaryotic translation initiation factor 2-alpha kinase 3
Gene name EIF2AK3 (eukaryotic translation initiation factor 2-alpha kinase 3)
Chromosome 2
Transcript - NCBI ID NM_004836.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_004827.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.58_63del r.(?) p.(Leu20_Leu21del)
?/. - c.58_63del r.(?) p.(Leu20_Leu21del)
?/. - c.58_63dup r.(?) p.(Leu20_Leu21dup)
-/. - c.61_62del r.(?) p.(Leu21GlyfsTer55)
-/. - c.61_63del r.(?) p.(Leu21del)
-/. - c.61_63del r.(?) p.(Leu21del)
-/. - c.61_63del r.(?) p.(Leu21del)
?/. - c.61_63del r.(?) p.(Leu21del)
?/. - c.68T>G r.(?) p.(Leu23Arg)
?/. - c.112G>A r.(?) p.(Ala38Thr)
-?/. - c.149C>T r.(?) p.(Ala50Val)
-?/. - c.154G>A r.(?) p.(Ala52Thr)
-?/. - c.213T>C r.(?) p.(Thr71=)
?/. - c.423C>A r.(?) p.(Ser141Arg)
-/. - c.439-170A>G r.(=) p.(=)
-?/. - c.439-170A>G r.(=) p.(=)
?/. - c.493G>A r.(?) p.(Asp165Asn)
-/. - c.497A>G r.(?) p.(Gln166Arg)
-/. - c.497A>G r.(?) p.(Gln166Arg)
-/. - c.497A>G r.(?) p.(Gln166Arg)
?/. - c.530C>T r.(?) p.(Thr177Ile)
?/. - c.719G>A r.(?) p.(Arg240His)
-?/. - c.744C>T r.(?) p.(Val248=)
?/. - c.782T>C r.(?) p.(Val261Ala)
-?/. - c.807T>C r.(?) p.(Ile269=)
-?/. - c.822G>A r.(?) p.(Thr274=)
?/. - c.928A>T r.(?) p.(Ile310Leu)
-?/. - c.1002+5C>G r.spl? p.?
?/. - c.1019C>T r.(?) p.(Ala340Val)
+?/. - c.1310C>A r.(?) p.(Ser437Tyr)
-?/. - c.1325C>G r.(?) p.(Pro442Arg)
+/. - c.1337del r.(?) p.(Gly446AspfsTer80)
-?/. - c.1504G>A r.(?) p.(Asp502Asn)
+/. - c.1622_1623del r.(?) p.(Arg541GlnfsTer15)
?/. - c.1697A>T r.(?) p.(Asp566Val)
-/. - c.1763+6A>T r.(=) p.(=)
-/. - c.1763+6A>T r.(=) p.(=)
-/. - c.1763+6A>T r.(=) p.(=)
-/. - c.1791A>G r.(?) p.(Gln597=)
-/. - c.1791A>G r.(?) p.(Gln597=)
-/. - c.1791A>G r.(?) p.(Gln597=)
?/. - c.1843G>T r.(?) p.(Asp615Tyr)
?/. - c.1843_1844inv r.(?) p.(Asp615Ser)
?/. - c.1844A>C r.(?) p.(Asp615Ala)
-?/. - c.1886+7G>T r.(=) p.(=)
-?/. - c.1947G>A r.(?) p.(Pro649=)
-/. - c.2110G>T r.(?) p.(Ala704Ser)
-/. - c.2110G>T r.(?) p.(Ala704Ser)
-/. - c.2110G>T r.(?) p.(Ala704Ser)
-?/. - c.2147C>T r.(?) p.(Pro716Leu)
-?/. - c.2265G>C r.(?) p.(Val755=)
-?/. - c.2532T>C r.(?) p.(Ser844=)
-?/. - c.2818-73T>A r.(=) p.(=)
+/. - c.2985+1dup r.spl? p.?
+?/. - c.3150+1G>A r.spl? p.?
?/. - c.3214A>G r.(?) p.(Ile1072Val)
-?/. - c.3291A>G r.(?) p.(Ser1097=)
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