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_001024847.3

p.I210T

c.629T>C

NM_003242.6

p.I185T

c.554T>C

Surrounding Variants

1 paper

NM_003242.6

p.F186I

c.556T>A

1 paper

NM_003242.6

p.Y187S

c.560A>C

1 paper

NM_003242.6

p.V182L

c.544G>C

1 paper

NM_003242.6

p.S181A

c.541T>G

6 papers

NM_003242.6

p.R190H

c.569G>A

1 paper

NM_003242.6

p.I180insFs

c.539_540insA

11 papers

NM_003242.6

p.V191I

c.571G>A

NM_001024847.3

p.V216I

c.646G>A

2 papers

NM_003242.6

p.A179S

c.535G>T

1 paper

NM_003242.6

p.R193delFs

c.577delC

2 papers

NM_003242.6

p.V178I

c.532G>A

1 paper

NM_003242.6

p.G177G

c.531A>T

4 papers

NM_003242.6

p.R193W

c.577C>T