Transcript #00015903 (NM_002609.3, PDGFRB gene)

Transcript name platelet-derived growth factor receptor, beta polypeptide
Gene name PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Chromosome 5
Transcript - NCBI ID NM_002609.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002600.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

151 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-302C>T r.(?) p.(=)
-?/. - c.-6-15T>C r.(=) p.(=)
-?/. - c.-6-5T>C r.spl? p.?
+/. - c.-469_1579{0} NM_152263.2:r.-115_775::r.1580_*1924 p.?
+/. - c.1580_*1924{0} r.-469_1579::NM_153649.3:r.665del_*2326 p.?
?/. - c.11C>A r.(?) p.(Pro4Gln)
-?/. - c.17C>T r.(?) p.(Ala6Val)
-?/. - c.85A>T r.(?) p.(Ile29Phe)
-?/. - c.85A>T r.(?) p.(Ile29Phe)
-?/. - c.102C>T r.(?) p.(Val34=)
-?/. - c.212A>G r.(?) p.(Gln71Arg)
-?/. - c.255C>T r.(?) p.(Leu85=)
-?/. - c.255C>T r.(?) p.(Leu85=)
-?/. - c.263C>T r.(?) p.(Thr88Ile)
-?/. - c.263C>T r.(?) p.(Thr88Ile)
-?/. - c.331G>A r.(?) p.(Asp111Asn)
-?/. - c.365-4G>T r.spl? p.?
?/. - c.448C>T r.(?) p.(Arg150Ter)
?/. - c.541G>A r.(?) p.(Gly181Ser)
-?/. - c.581T>C r.(?) p.(Ile194Thr)
-?/. - c.581T>C r.(?) p.(Ile194Thr)
-?/. - c.590G>A r.(?) p.(Arg197Lys)
-?/. - c.714C>T r.(?) p.(Ile238=)
-?/. - c.759+6G>T r.(=) p.(=)
-?/. - c.844G>A r.(?) p.(Glu282Lys)
-?/. - c.858G>A r.(?) p.(Ser286=)
-?/. - c.899A>G r.(?) p.(His300Arg)
-?/. - c.899A>G r.(?) p.(His300Arg)
-?/. - c.945C>T r.(?) p.(Tyr315=)
-?/. - c.946G>A r.(?) p.(Val316Met)
-?/. - c.946G>A r.(?) p.(Val316Met)
?/. - c.950G>A r.(?) p.(Arg317Gln)
-?/. - c.971C>T r.(?) p.(Thr324Ile)
-?/. - c.1029C>T r.(?) p.(Tyr343=)
-/. - c.1033C>T r.(?) p.(Pro345Ser)
?/. - c.1064G>A r.(?) p.(Arg355His)
-?/. - c.1064G>A r.(?) p.(Arg355His)
?/. - c.1106C>T r.(?) p.(Thr369Met)
-?/. - c.1108C>T r.(?) p.(Arg370Cys)
-?/. - c.1149G>C r.(?) p.(Leu383=)
-/. - c.1149G>C r.(?) p.(Leu383=)
-?/. - c.1149G>C r.(?) p.(Leu383=)
-?/. - c.1243+4A>T r.spl? p.?
-?/. - c.1244-14C>T r.(=) p.(=)
-?/. - c.1367+15G>A r.(=) p.(=)
-?/. - c.1368G>A r.(?) p.(Arg456=)
-?/. - c.1376G>A r.(?) p.(Arg459His)
-?/. - c.1391C>T r.(?) p.(Thr464Met)
-?/. - c.1391C>T r.(?) p.(Thr464Met)
-?/. - c.1393C>T r.(?) p.(Leu465=)
-?/. - c.1437C>T r.(?) p.(Asn479=)
-?/. - c.1452G>A r.(?) p.(Glu484=)
-/. - c.1453G>A r.(?) p.(Glu485Lys)
-?/. - c.1473G>A r.(?) p.(Val491=)
-?/. - c.1504C>T r.(?) p.(Arg502Trp)
?/. - c.1504C>T r.(?) p.(Arg502Trp)
-?/. - c.1505G>A r.(?) p.(Arg502Gln)
-?/. - c.1505G>A r.(?) p.(Arg502Gln)
-?/. - c.1554G>A r.(?) p.(Thr518=)
?/. - c.1574C>T r.(?) p.(Pro525Leu)
?/. - c.1574C>T r.(?) p.(Pro525Leu)
-?/. - c.1579+10C>T r.(=) p.(=)
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg)
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg)
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg)
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg)
?/. - c.1654C>T r.(?) p.(Leu552Phe)
+/. 12 c.1681C>T r.(?) p.(Arg561Cys)
+/. - c.1681C>T r.(?) p.(Arg561Cys)
+/. 12 c.1696T>C r.(?) p.(Trp566Arg)
+/. 12 c.1696T>C r.(?) p.(Trp566Arg)
+/. 12 c.1696T>C r.(?) p.(Trp566Arg)
+?/. - c.1696T>C r.(?) p.(Trp566Arg)
+/. 12 c.1696T>M r.(?) p.(Trp566Arg)
+/. 12 c.1696T>M r.(?) p.(Trp566Arg)
+/. 12 c.1697_1702del r.(?) p.(Trp566_Val568delinsLeu)
?/. - c.1723G>A r.(?) p.(Asp575Asn)
+/. 12 c.1751C>G r.(?) p.(Pro584Arg)
+/. 12 c.1751C>G r.(?) p.(Pro584Arg)
-/. - c.1761G>A r.(?) p.(Leu587=)
-/. - c.1854G>A r.(?) p.(Thr618=)
-/. - c.1854G>A r.(?) p.(Thr618=)
-/. - c.1854G>A r.(?) p.(Thr618=)
-?/. - c.1872T>C r.(?) p.(His624=)
+/. 14 c.1994T>C r.1994u>c p.Val665Ala
+/. 14 c.1994T>C r.(?) p.(Val665Ala)
+/. 14 c.1994T>C r.1994u>c p.(Val665Ala)
+/. 14 c.1994T>C r.(?) p.(Val665Ala)
+/. - c.1996A>C r.(?) p.(Asn666His)
+/. 14 c.1997A>G r.(?) p.(Asn666Ser)
+/. 14 c.1998C>A r.(?) p.(Asn666Lys)
+/. 14 c.1998C>A r.(?) p.(Asn666Lys)
+/. 14 c.1998C>A r.(?) p.(Asn666Lys)
+/. 14 c.1998C>A r.(?) p.(Asn666Lys)
+/. 14 c.1998C>A r.(?) p.(Asn666Lys)
+/. 14 c.1998C>G r.(?) p.(Asn666Lys)
-?/. - c.2058C>T r.(?) p.(Tyr686=)
-?/. - c.2126G>A r.(?) p.(Arg709His)
?/. - c.2195T>G r.(?) p.(Leu732Trp)
?/. - c.2321C>G r.(?) p.(Pro774Arg)
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