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_003242.6

p.E151V

c.452A>T

Surrounding Variants

1 paper

NM_003242.6

p.S150*

c.449C>A

1 paper

NM_003242.6

p.S150*

c.449C>G

1 paper

NM_003242.6

p.S150L

c.449C>T

1 paper

NM_003242.6

p.E152Splc

c.454+2T>A

1 paper

NM_003242.6

p.S150P

c.448T>C

1 paper

NM_003242.6

p.S150insFs

c.448_449insA

1 paper

NM_003242.6

p.S150insFs

c.448_449insAA

1 paper

NM_003242.6

p.S150delFs

c.449delC

2 papers

NM_003242.6

p.F149I

c.445T>A

1 paper

NM_003242.6

p.F149V

c.445T>G

1 paper

NM_003242.6

p.I148S

c.443T>G

1 paper

NM_003242.6

p.I147T

c.440T>C