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.C143*

c.429C>A

Surrounding Variants

1 paper

NM_003242.6

p.N144_D145del2

c.430_434del6

1 paper

NM_003242.6

p.N144S

c.431A>G

1 paper

NM_003242.6

p.E142D

c.426G>C

1 paper

NM_003242.6

p.E142D

c.426G>T

1 paper

NM_003242.6

p.D145V

c.434A>T

1 paper

NM_003242.6

p.E142*

c.424G>T

1 paper

NM_003242.6

p.N146N

c.438C>T

1 paper

NM_003242.6

p.S140T

c.418T>A

1 paper

NM_003242.6

p.I147T

c.440T>C

1 paper

NM_003242.6

p.I148S

c.443T>G

1 paper

NM_003242.6

p.C138Y

c.413G>A

2 papers

NM_003242.6

p.F149I

c.445T>A