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.K291*

c.871A>T

Surrounding Variants

1 paper

NM_003242.6

p.K291R

c.872A>G

1 paper

NM_003242.6

p.E290D

c.870G>T

2 papers

NM_003242.6

p.E290G

c.869A>G

1 paper

NM_003242.6

p.K291K

c.873G>A

2 papers

NM_003242.6

p.E290K

c.868G>A

3 papers

NM_003242.6

p.K291del1

c.871_873delAAG

2 papers

NM_003242.6

p.D292G

c.875A>G

1 paper

NM_003242.6

p.E290_K291del2

c.868_872del6

1 paper

NM_003242.6

p.D292E

c.876C>A

1 paper

NM_003242.6

p.F294_S295del1

c.881_883delTCT

1 paper

NM_003242.6

p.I293insFs

c.878_879insAG

1 paper

NM_003242.6

p.I293M

c.879C>G