Varaico: Literature-Extracted Genetic Variants

TGFBR2

1,068 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand comp...

Pfam Domains

ecTbetaR2aa 14–124UCSCTransforming growth factor beta receptor 2 ectodomain

PK_Tyr_Ser-Thraa 209–503UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

transforming growth factor beta receptor 2

HGNC Previous Symbol

MFS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_003242.6

p.Y153delFs

c.458delA

Surrounding Variants

5 papers

NM_003242.6

p.Y153insFs

c.458dupA

1 paper

NM_003242.6

p.E152_Y153insFs

c.456_457insT

1 paper

NM_003242.6

p.Y153delFs

c.457_458delTA

1 paper

NM_003242.6

p.N154D

c.460A>G

1 paper

NM_003242.6

p.E152Splc

c.455-1G>T

13 papers

NM_003242.6

p.E152Splc

c.455-4T>A

1 paper

NM_003242.6

p.T155insFs

c.464_465insA

1 paper

NM_003242.6

p.S156fs

c.466_467fs

2 papers

NM_003242.6

p.S156I

c.467G>T

1 paper

NM_003242.6

p.N157delFs

c.469_470delAA

1 paper

NM_003242.6

p.N157Y

c.469A>T

1 paper

NM_003242.6

p.L160L

c.478T>C