View transcript #00000011

Transcript name transcript variant 1
Gene name TGFBR1 (transforming growth factor, beta receptor 1)
Chromosome 9
Transcript - NCBI ID NM_004612.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004603.1
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
+/+ 3 c.521G>T r.(?) p.(Gly174Val)
+/+ 4 c.598A>C r.(?) p.(Thr200Pro)
./. 4 c.598A>C r.(?) p.(Thr200Pro)
./. 4 c.605C>T r.(?) p.(Ala202Val)
./. 4 c.605C>T r.(?) p.(Ala202Val)
./. 4 c.605C>T r.(?) p.(Ala202Val)
./. 4 c.605C>T r.(?) p.(Ala202Val)
+/+ 4 c.605C>T r.(?) p.(Ala202Val)
+/+ 4 c.649G>A r.(?) p.(Gly217Arg)
+/+ 4 c.650G>T r.(?) p.(Gly217Val)
+/+ 4 c.652G>A r.(?) p.(Glu218Lys)
+/+ 4 c.670T>G r.(?) p.(Trp224Gly)
./. 4 c.676G>A r.(?) p.(Gly226Arg)
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
./. 4 c.683_685delAAG r.(?) p.(Glu228del)
+/+ 4 c.685G>C r.(?) p.(Val229Leu)
+/+ 4 c.689C>A r.(?) p.(Ala230Asp)
+/+ 4 c.700T>C r.(?) p.(Phe234Leu)
+/+ 4 c.702C>G r.(?) p.(Phe234Leu)
./. 4 c.702C>G r.(?) p.(Phe234Leu)
./. 4 c.702C>G r.(?) p.(Phe234Leu)
./. 4 c.702C>G r.(?) p.(Phe234Leu)
./. 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
./. 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.722C>T r.(?) p.(Ser241Leu)
+/+ 4 c.734A>G r.(?) p.(Glu245Gly)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.759G>A r.(?) p.(Met253Ile)
+/+ 4 c.781G>A r.(?) p.(Gly261Arg)
+/+ 4 c.789A>G r.(?) p.(Ile263Met)
+/+ 4 c.796G>T r.(?) p.(Asp266Tyr)
+/+ 4 c.797A>G r.(?) p.(Asp266Gly)
+/+ 4 c.799A>C r.(?) p.(Asn267His)
+/+ 4 c.821C>G r.(?) p.(Thr274Ser)
+/+ 4 c.821C>G r.(?) p.(Thr274Ser)
./. 5 c.844T>C r.(?) p.(Tyr282His)
./. 5 c.844T>C r.(?) p.(Tyr282His)
./. 5 c.844T>C r.(?) p.(Tyr282His)
./. 5 c.848A>C r.(?) p.(His283Pro)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
+/+ 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
+/+ 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
+/+ 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
./. 5 c.934G>A r.(?) p.(Gly312Ser)
+/+ 5 c.944A>G r.(?) p.(His315Arg)
+/+ 6 c.998A>G r.(?) p.(Asp333Gly)
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
+/+ 6 c.1013A>G r.(?) p.(Asn338Ser)
+/+ 6 c.1051G>C r.(?) p.(Asp351His)
+/+ 6 c.1051G>T r.(?) p.(Asp351Tyr)
+/+ 6 c.1052A>G r.(?) p.(Asp351Gly)
+/+ 6 c.1058G>T r.(?) p.(Gly353Val)
+/+ 6 c.1058G>T r.(?) p.(Gly353Val)
+/+ 6 c.1061T>C r.(?) p.(Leu354Pro)
+/+ 6 c.1121G>A r.(?) p.(Gly374Glu)
+/+ 6 c.1124C>T r.(?) p.(Thr375Ile)
+/+ 7 c.1135A>G r.(?) p.(Met379Val)
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
+/+ 9 c.1457T>C r.(?) p.(Leu486Ser)
+/+ 9 c.1457T>G r.(?) p.(Leu486Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
./. 9 c.1459C>T r.(?) p.(Arg487Trp)
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