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.K233E

c.697A>G

NM_003242.6

p.K208E

c.622A>G

Surrounding Variants

1 paper

NM_003242.6

p.T206R

c.617C>G

7 papers

NM_003242.6

p.T206M

c.617C>T

1 paper

NM_003242.6

p.T206A

c.616A>G

1 paper

NM_003242.6

p.T206_I219del14

c.616_656del42

1 paper

NM_003242.6

p.K205R

c.614A>G

1 paper

NM_003242.6

p.K205E

c.613A>G

1 paper

NM_001024847.3

p.E236V

c.707A>T

1 paper

NM_001024847.3

p.G229D

c.686G>A

NM_003242.6

p.G204D

c.611G>A

1 paper

NM_003242.6

p.F212S

c.635T>C

1 paper

NM_003242.6

p.T203A

c.607A>G

1 paper

NM_003242.6

p.S213R

c.639C>A

2 papers

NM_003242.6

p.S213S

c.639C>T