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.Y448F

c.1343A>T

Surrounding Variants

1 paper

NM_003242.6

p.Y448N

c.1342T>A

4 papers

NM_003242.6

p.Y448H

c.1342T>C

1 paper

NM_003242.6

p.Y448_S449insA

c.1342_1346ins3

1 paper

NM_003242.6

p.Y448_S449insAA

c.1342_1346ins6

1 paper

NM_003242.6

p.V447V

c.1341C>T

3 papers

NM_003242.6

p.S449C

c.1346C>G

26 papers

NM_003242.6

p.S449F

c.1346C>T

1 paper

NM_003242.6

p.V447D

c.1340T>A

4 papers

NM_003242.6

p.V447A

c.1340T>C

2 papers

NM_003242.6

p.S449S

c.1347C>T

1 paper

NM_003242.6

p.V447I

c.1339G>A

1 paper

NM_003242.6

p.M450V

c.1348A>G