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_001024847.3

p.I349I

c.1047C>T

Surrounding Variants

1 paper

NM_003242.6

p.T325fs

c.973_974fs

2 papers

NM_003242.6

p.T325P

c.973A>C

1 paper

NM_003242.6

p.T325delFs

c.974delC

1 paper

NM_003242.6

p.L323insFs

c.968_969insA

1 paper

NM_003242.6

p.L323V

c.967C>G

3 papers

NM_003242.6

p.W322*

c.966G>A

3 papers

NM_003242.6

p.W322*

c.965G>A

1 paper

NM_003242.6

p.F327V

c.979T>G

2 papers

NM_003242.6

p.W322G

c.964T>G

1 paper

NM_003242.6

p.W322_T325del0

c.965_973del9

1 paper

NM_003242.6

p.H328Y

c.982C>T

10 papers

NM_003242.6

p.A329T

c.985G>A