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

2 papers

NM_003242.6

p.G420R

c.1258G>A

Surrounding Variants

2 papers

NM_003242.6

p.G420R

c.1258G>C

1 paper

NM_003242.6

p.G420fs

c.1258_1259fs

2 papers

NM_003242.6

p.G420E

c.1259G>A

1 paper

NM_003242.6

p.G420A

c.1259G>C

1 paper

NM_003242.6

p.V419V

c.1257G>T

1 paper

NM_003242.6

p.G420V

c.1259G>T

1 paper

NM_003242.6

p.G420G

c.1260A>G

5 papers

NM_003242.6

p.V419E

c.1256T>A

4 papers

NM_003242.6

p.T421A

c.1261A>G

1 paper

NM_003242.6

p.V419M

c.1255G>A

4 papers

NM_003242.6

p.V419L

c.1255G>C

4 papers

NM_003242.6

p.V419L

c.1255G>T