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.C138Y

c.413G>A

Surrounding Variants

3 papers

NM_003242.6

p.C138R

c.412T>C

3 papers

NM_003242.6

p.C138G

c.412T>G

1 paper

NM_003242.6

p.S137Y

c.410C>A

1 paper

NM_003242.6

p.S137fs

c.409_410fs

1 paper

NM_003242.6

p.S140T

c.418T>A

2 papers

NM_003242.6

p.C136S

c.407G>C

2 papers

NM_003242.6

p.C136S

c.406T>A

1 paper

NM_003242.6

p.S137_C138del2

c.409_413del6

1 paper

NM_003242.6

p.M135K

c.404T>A

1 paper

NM_003242.6

p.M135L

c.403A>C

1 paper

NM_003242.6

p.M135L

c.403A>T

1 paper

NM_003242.6

p.E142*

c.424G>T