Transcript #00007181 (NM_000121.3, EPOR gene)

Transcript name transcript variant 1
Gene name EPOR (erythropoietin receptor)
Chromosome 19
Transcript - NCBI ID NM_000121.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000112.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.1041G>A r.(?) p.(Pro347=)
+/+ 8 c.1142_1143del r.(?) p.(Pro381Glnfs*2)
+/+ 8 c.1195G>T r.(?) p.(Glu399*)
+/+ 8 c.1234del r.(?) p.(Ser412Argfs*41)
+?/+ 8 c.1235C>A r.(?) p.(Ser412*)
+/+ 8 c.1249G>T r.(?) p.(Glu417*)
+/+ 8 c.1271_1272del r.(?) p.(Phe424*)
+/+ 8 c.1278C>G r.(?) p.(Tyr426*)
+/+ 8 c.1278C>G r.(?) p.(Tyr426*)
+/+ 8 c.1281dup r.(?) p.(Ile428Tyrfs*17)
+/+ 8 c.1283_1289dup r.(?) p.(Ser432Glyfs*15)
+/+ 8 c.1285del r.(?) p.(Leu429Trpfs*24)
+/+ 8 c.1288dup r.(?) p.(Asp430Glyfs*15)
+/+ 8 c.1299_1305del r.(?) p.(Gln434Cysfs*17)
+/+ 8 c.1299_1305del r.(?) p.(Gln434Cysfs*17)
+/+ 8 c.1300C>T r.(?) p.(Gln434*)
+/+ 8 c.1311_1312del r.(?) p.(Pro438Metfs*6)
+/+ 8 c.1311_1312del r.(?) p.(Pro438Metfs*6)
+/. 8 c.1316G>A r.(?) p.(Trp439*)
+/+ 8 c.1317G>A r.(?) p.(Trp439*)
-?/-? 8 c.1460A>G r.(?) p.(Asn487Ser)
?/? 8 c.1460A>G r.(?) p.(Asn487Ser)
?/? 8 c.1460A>G r.(?) p.Asn487Ser
+?/+? 8 c.1462C>T r.(?) p.(Pro488Ser)
?/? 8 c.1462C>T r.(?) p.(Pro488Ser)
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