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

1–12 of 1083 variants

65 papers

NM_003242.6

p.R528H

c.1583G>A

49 papers

NM_003242.6

p.R528C

c.1582C>T

44 papers

NM_003242.6

p.R460H

c.1379G>A

41 papers

NM_003242.6

p.R537C

c.1609C>T

36 papers

NM_003242.6

p.G357W

c.1069G>T

34 papers

NM_003242.6

p.D446N

c.1336G>A

26 papers

NM_003242.6

p.S449F

c.1346C>T

25 papers

NM_003242.6

p.T315M

c.944C>T

24 papers

NM_003242.6

p.K128insFs

c.383dupA

24 papers

NM_003242.6

p.K128delFs

c.383delA

24 papers

NM_003242.6

p.V387M

c.1159G>A

23 papers

NM_003242.6

p.R460C

c.1378C>T