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

11 papers

NM_003242.6

p.W521*

c.1562G>A

Surrounding Variants

11 papers

NM_003242.6

p.W521*

c.1563G>A

1 paper

NM_003242.6

p.W521_D522insFs

c.1563_1564ins4

8 papers

NM_003242.6

p.W521R

c.1561T>A

8 papers

NM_003242.6

p.W521R

c.1561T>C

10 papers

NM_003242.6

p.D522N

c.1564G>A

1 paper

NM_003242.6

p.D522A

c.1565A>C

1 paper

NM_003242.6

p.D522_Q532delFs

c.1566_1596del31

3 papers

NM_003242.6

p.C520Y

c.1559G>A

1 paper

NM_003242.6

p.C520R

c.1558T>C

1 paper

NM_003242.6

p.H523fs

c.1567_1568fs

1 paper

NM_003242.6

p.E519G

c.1556A>G

7 papers

NM_003242.6

p.E519K

c.1555G>A