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.L161F

c.483G>C

Surrounding Variants

1 paper

NM_003242.6

p.L161F

c.483G>T

1 paper

NM_003242.6

p.L161M

c.481T>A

1 paper

NM_003242.6

p.L162P

c.485T>C

1 paper

NM_001024847.3

p.L186delFs

c.556_557delTT

1 paper

NM_003242.6

p.L160*

c.479T>A

1 paper

NM_003242.6

p.L160S

c.479T>C

1 paper

NM_003242.6

p.L160L

c.478T>C

1 paper

NM_003242.6

p.L160V

c.478T>G

1 paper

NM_003242.6

p.I164_G169delFs

c.492_507del16

1 paper

NM_003242.6

p.N157Y

c.469A>T

1 paper

NM_003242.6

p.N157delFs

c.469_470delAA

2 papers

NM_003242.6

p.S156I

c.467G>T