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.S229F

c.686C>T

Surrounding Variants

1 paper

NM_003242.6

p.T230M

c.689C>T

1 paper

NM_003242.6

p.S228G

c.682A>G

1 paper

NM_003242.6

p.C231Y

c.692G>A

1 paper

NM_003242.6

p.C231F

c.692G>T

2 papers

NM_003242.6

p.I227T

c.680T>C

1 paper

NM_003242.6

p.A232A

c.696C>T

1 paper

NM_003242.6

p.N233_N234insGG

c.697_701ins6

3 papers

NM_003242.6

p.R224H

c.671G>A

1 paper

NM_003242.6

p.R224L

c.671G>T

1 paper

NM_003242.6

p.R224C

c.670C>T

1 paper

NM_003242.6

p.I235fs

c.703_704fs

1 paper

NM_003242.6

p.D223A

c.668A>C