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

8 papers

NM_003242.6

p.P129fs

c.385_386fs

Surrounding Variants

2 papers

NM_003242.6

p.P129T

c.385C>A

11 papers

NM_003242.6

p.P129fs

c.385_386fs

2 papers

NM_003242.6

p.P129H

c.386C>A

1 paper

NM_003242.6

p.K128R

c.383A>G

1 paper

NM_001024847.3

p.K153delFs

c.459delG

6 papers

NM_003242.6

p.K128fs

c.382_383fs

13 papers

NM_003242.6

p.K128fs

c.382_383fs

1 paper

NM_003242.6

p.G130C

c.388G>T

1 paper

NM_003242.6

p.G130V

c.389G>T

1 paper

NM_003242.6

p.E131_N144del14

c.391_431del42

1 paper

NM_003242.6

p.K127R

c.380A>G

1 paper

NM_003242.6

p.K127I

c.380A>T