Transcript #00001056 (NM_004586.2, RPS6KA3 gene)

Transcript name ribosomal protein S6 kinase, 90kDa, polypeptide 3
Gene name RPS6KA3 (ribosomal protein S6 kinase, 90kDa, polypeptide 3)
Chromosome X
Transcript - NCBI ID NM_004586.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004577.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

62 entries on 1 page. Showing entries 1 - 62.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.20C>T r.(?) p.(Ala7Val)
?/. - c.70-73dup r.(=) p.(=)
?/. - c.83T>C r.(?) p.(Ile28Thr)
?/. - c.113T>G r.(?) p.(Ile38Ser)
-/. - c.113T>G r.(?) p.(Ile38Ser)
-?/. - c.139A>G r.(?) p.(Ile47Val)
-?/. - c.139A>G r.(?) p.(Ile47Val)
?/. - c.213A>G r.(=) p.(=)
-?/. - c.213A>G r.(?) p.(Leu71=)
+/. - c.243+1G>T r.spl? p.?
-?/. - c.244-5T>C r.spl? p.?
+/. 1 c.256A>T r.(?) p.(Lys86*)
+/. - c.325+2del r.spl? p.?
-?/. - c.406+12C>A r.(=) p.(=)
+/. - c.609del r.(?) p.(Glu204LysfsTer6)
+/. - c.629C>G r.(?) p.(Thr210Arg)
+/. - c.739C>T r.(?) p.(Gln247Ter)
?/. - c.775-64del r.(=) p.(=)
-?/. - c.775-15T>C r.(=) p.(=)
-/. - c.798C>A r.(?) p.(Leu266=)
?/. - c.803T>A r.(?) p.(Phe268Tyr)
./. - c.827C>A r.(?) p.(Thr276Lys)
-?/. - c.846-6A>G r.(=) p.(=)
+/. - c.913C>T r.(?) p.(Arg305Ter)
+/. - c.932T>G r.(?) p.(Leu311Ter)
+?/. - c.935G>A r.(?) p.(Gly312Asp)
?/. - c.943C>A r.(?) p.(Pro315Thr)
+/. - c.969del r.(?) p.(Arg323SerfsTer8)
-?/. - c.1000-10del r.(=) p.(=)
+/. - c.1000-1G>A r.spl? p.?
-/. - c.1080G>A r.(?) p.(Glu360=)
+/. 13i c.1103-2A>G r.spl p.?
-?/. - c.1187G>A r.(?) p.(Ser396Asn)
+/. - c.1198C>T r.(?) p.(Gln400Ter)
-?/. - c.1246A>G r.(?) p.(Ile416Val)
-?/. - c.1246A>G r.(?) p.(Ile416Val)
+?/. - c.1264T>G r.(?) p.(Tyr422Asp)
+/. - c.1304_1307del r.(?) p.(Val435Alafs*15)
?/. - c.1353G>A r.(?) p.(Lys451=)
?/. - c.1443+5G>A r.spl? p.?
+?/. - c.1487T>G r.(?) p.(Met496Arg)
?/. - c.1488G>A r.(?) p.(Met496Ile)
-?/. - c.1578C>T r.(?) p.(Thr526=)
?/. - c.1579G>A r.(?) p.(Val527Ile)
./. - c.1630A>G r.(?) p.(Asn544Asp)
+?/. - c.1630A>T r.(?) p.(Asn544Tyr)
+/. - c.1676T>A r.(=) p.(Ile559Asn)
+/. - c.1703dup r.(?) p.(Arg569Glufs*28)
+?/. - c.1742C>T r.(?) p.(Thr581Ile)
+/. - c.1765-1G>C r.spl? p.?
+?/. 17 c.1784A>G r.(?) p.(Tyr595Cys)
+/. - c.1921_1922del r.(?) p.(Ser641TrpfsTer72)
-?/. - c.2073C>T r.(?) p.(Asn691=)
?/. 22 c.2135G>A r.(?) p.(Arg712His)
-?/. - c.2168G>A r.(?) p.(Arg723His)
-?/. - c.2168G>A r.(?) p.(Arg723His)
?/. - c.2168G>A r.(?) p.(Arg723His)
?/. - c.2168G>A r.(?) p.(Arg723His)
-/. - c.2168G>A r.(?) p.(Arg723His)
-?/. - c.2168G>A r.(?) p.(Arg723His)
-?/. - c.2185C>A r.(?) p.(Arg729=)
+/. - c.2185C>T r.(?) p.(Arg729Trp)
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