Transcript #00006873 (NM_000114.2, EDN3 gene)

Transcript name transcript variant 1
Gene name EDN3 (endothelin 3)
Chromosome 20
Transcript - NCBI ID NM_000114.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000105.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/-? 1 c.-248G>A r.(?) p.(=)
+/+ 1 c.-125G>A r.(=) p.(=)
-?/. 1 c.46G>A r.(?) p.(Ala16Thr)
+?/-? 1 c.49G>A r.(?) p.(Ala17Thr)
-?/. 2 c.95G>C r.(?) p.(Gly32Ala)
+/+ 2 c.144G>C r.(?) p.(Glu48Asp)
+/+ 2 c.163G>T r.(?) p.(Glu55*)
-?/. 2 c.167_190del r.(?) p.(Glu56_Glu63del)
-?/. 2 c.203C>T r.(?) p.(Pro68Leu)
+/+ 2 c.262dup r.(?) p.(Ala88Glyfs*3)
+/+ 2 c.262_263delinsT r.(?) p.(Ala88Serfs*121)
+/+ 2 c.262_263delinsT r.(?) p.(Ala88Serfs*121)
+?/+? 2 c.277C>G r.(?) p.(Arg93Gly)
?/. 2 c.278G>A r.(?) p.(Arg93Gln)
+?/+? 2 c.286C>T r.(?) p.(Arg96Cys)
+?/+? 2 c.293C>A r.(?) p.(Thr98Lys)
+?/+? 2 c.293C>A r.(?) p.(Thr98Lys)
+?/+? 2 c.293C>A r.(?) p.(Thr98Lys)
+?/+? 2 c.293C>T r.(?) p.(Thr98Met)
?/. - c.313A>G r.(?) p.(Lys105Glu)
+?/+? 2 c.335A>G r.(?) p.(His112Arg)
+?/+? 3 c.380A>G r.(?) p.(Tyr127Cys)
?/? 3 c.472C>A r.(?) p.(Arg158Ser)
+?/+? 3 c.476G>T r.(?) p.(Cys159Phe)
+?/+? 3 c.476G>T r.(?) p.(Cys159Phe)
+?/+? 3 c.476G>T r.(?) p.(Cys159Phe)
+/+ 3 c.498C>G r.(?) p.(Asp166Glu)
+/+ 3 c.507C>A r.(?) p.(Cys169*)
+/+ 3 c.507C>A r.(?) p.(Cys169*)
+/+ 3 c.517T>C r.(?) p.(Cys173Arg)
+?/+? 3 c.517T>C r.(?) p.(Cys173Arg)
?/. 4 c.548C>T r.(?) p.(Ser183Leu)
+/+ 4 c.554C>T r.(?) p.(Thr185Met)
?/. 4 c.565dup r.(?) p.(Thr189AsnfsTer10)
+?/-? 4 c.565dup r.(?) p.(Thr189Asnfs*10)
?/. 4 c.568_569del r.(?) p.(Asp190GlnfsTer8)
-?/. 5 c.646A>C r.(?) p.(Met216Leu)
+?/-? 5 c.670G>A r.(?) p.(Ala224Thr)
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