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

1 paper

NM_003242.6

p.T200P

c.598A>C

Surrounding Variants

4 papers

NM_003242.6

p.T200I

c.599C>T

1 paper

NM_003242.6

p.S199*

c.596C>G

2 papers

NM_003242.6

p.W201*

c.602G>A

1 paper

NM_003242.6

p.W201*

c.603G>A

1 paper

NM_003242.6

p.E202_K208delFs

c.605_623del19

1 paper

NM_003242.6

p.L197R

c.590T>G

1 paper

NM_003242.6

p.T203A

c.607A>G

1 paper

NM_003242.6

p.L197fs

c.589_590fs

1 paper

NM_001024847.3

p.G229D

c.686G>A

NM_003242.6

p.G204D

c.611G>A

1 paper

NM_003242.6

p.K205E

c.613A>G

1 paper

NM_003242.6

p.K205R

c.614A>G

1 paper

NM_003242.6

p.T206_I219del14

c.616_656del42