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.F442S

c.1325T>C

Surrounding Variants

2 papers

NM_003242.6

p.F442L

c.1326C>A

2 papers

NM_003242.6

p.F442L

c.1326C>G

2 papers

NM_003242.6

p.F442L

c.1324T>C

1 paper

NM_003242.6

p.F442V

c.1324T>G

1 paper

NM_003242.6

p.K443T

c.1328A>C

6 papers

NM_003242.6

p.S441F

c.1322C>T

1 paper

NM_003242.6

p.Q444K

c.1330C>A

1 paper

NM_003242.6

p.E440A

c.1319A>C

1 paper

NM_003242.6

p.Q444P

c.1331A>C

5 papers

NM_003242.6

p.E440K

c.1318G>A

1 paper

NM_003242.6

p.E440*

c.1318G>T

1 paper

NM_003242.6

p.Q444H

c.1332G>T