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.L454L

c.1362C>G

Surrounding Variants

1 paper

NM_003242.6

p.L454L

c.1362C>A

1 paper

NM_003242.6

p.W455R

c.1363T>A

1 paper

NM_003242.6

p.L454P

c.1361T>C

1 paper

NM_003242.6

p.W455R

c.1363T>C

4 papers

NM_001024847.3

p.E481K

c.1441G>A

NM_003242.6

p.E456K

c.1366G>A

1 paper

NM_003242.6

p.E456_M457insT

c.1366_1370ins3

5 papers

NM_003242.6

p.V453E

c.1358T>A

1 paper

NM_003242.6

p.M457_T458del2

c.1369_1373del6

1 paper

NM_003242.6

p.M457L

c.1369A>C

1 paper

NM_003242.6

p.M457L

c.1369A>T

3 papers

NM_003242.6

p.L452P

c.1355T>C

1 paper

NM_003242.6

p.L452R

c.1355T>G