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.F255_T267delFs

c.765_799del35

Surrounding Variants

1 paper

NM_003242.6

p.A256_K262delFs

c.767_786del20

1 paper

NM_003242.6

p.A256T

c.766G>A

1 paper

NM_003242.6

p.A256fs

c.766_767fs

8 papers

NM_003242.6

p.R254H

c.761G>A

2 papers

NM_003242.6

p.R254C

c.760C>T

NM_001024847.3

p.R279C

c.835C>T

1 paper

NM_003242.6

p.A256_E257insFs

c.768_769insAG

2 papers

NM_003242.6

p.E257K

c.769G>A

3 papers

NM_003242.6

p.G253V

c.758G>T

1 paper

NM_003242.6

p.G253S

c.757G>A

2 papers

NM_003242.6

p.E257D

c.771G>C

2 papers

NM_003242.6

p.E257D

c.771G>T

1 paper

NM_003242.6

p.V258L

c.772G>C