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.A451insFs

c.1351dupG

Surrounding Variants

1 paper

NM_003242.6

p.M450T

c.1349T>C

1 paper

NM_003242.6

p.M450V

c.1348A>G

2 papers

NM_003242.6

p.A451_L452del0

c.1351_1356del6

1 paper

NM_003242.6

p.M450I

c.1350G>T

2 papers

NM_003242.6

p.S449S

c.1347C>T

1 paper

NM_003242.6

p.A451T

c.1351G>A

1 paper

NM_003242.6

p.A451fs

c.1351_1352fs

3 papers

NM_003242.6

p.S449C

c.1346C>G

26 papers

NM_003242.6

p.S449F

c.1346C>T

2 papers

NM_003242.6

p.L452del1

c.1354_1355delCTG

3 papers

NM_003242.6

p.L452M

c.1354C>A

3 papers

NM_003242.6

p.L452L

c.1354C>T