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_001024847.3

p.A556_Q557del2

c.1666_1670del6

Surrounding Variants

2 papers

NM_003242.6

p.T530I

c.1589C>T

2 papers

NM_003242.6

p.A531T

c.1591G>A

1 paper

NM_003242.6

p.T530A

c.1588A>G

1 paper

NM_003242.6

p.L529L

c.1587C>T

1 paper

NM_003242.6

p.Q532K

c.1594C>A

1 paper

NM_003242.6

p.Q532insFs

c.1595dupA

2 papers

NM_003242.6

p.Q532*

c.1594C>T

1 paper

NM_003242.6

p.L529P

c.1586T>C

1 paper

NM_003242.6

p.L529R

c.1586T>G

1 paper

NM_003242.6

p.V534insFs

c.1600_1601dupGT

5 papers

NM_003242.6

p.L529F

c.1585C>T

1 paper

NM_003242.6

p.L529delFs

c.1585delC