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.H102L

c.305A>T

Surrounding Variants

1 paper

NM_001024847.3

p.H127insFs

c.380dupA

1 paper

NM_003242.6

p.D103fs

c.307_308fs

1 paper

NM_001024847.3

p.D128delFs

c.383delA

1 paper

NM_003242.6

p.P104delFs

c.312delC

1 paper

NM_003242.6

p.C101R

c.301T>C

1 paper

NM_003242.6

p.P104fs

c.310_311fs

1 paper

NM_003242.6

p.P104H

c.311C>A

1 paper

NM_003242.6

p.V100I

c.298G>A

1 paper

NM_003242.6

p.K105fs

c.313_314fs

1 paper

NM_003242.6

p.T99I

c.296C>T

1 paper

NM_003242.6

p.L106fs

c.316_317fs

1 paper

NM_003242.6

p.E98V

c.293A>T