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

4 papers

NM_003242.6

p.F538S

c.1613T>C

Surrounding Variants

1 paper

NM_003242.6

p.F538L

c.1614C>A

1 paper

NM_003242.6

p.F538L

c.1614C>G

1 paper

NM_003242.6

p.F538L

c.1612T>C

1 paper

NM_003242.6

p.S539_E540insA

c.1615_1619ins3

4 papers

NM_003242.6

p.R537H

c.1610G>A

8 papers

NM_003242.6

p.R537P

c.1610G>C

6 papers

NM_003242.6

p.R537G

c.1609C>G

41 papers

NM_003242.6

p.R537C

c.1609C>T

2 papers

NM_003242.6

p.E540*

c.1618G>T

1 paper

NM_003242.6

p.E536*

c.1606G>T

1 paper

NM_003242.6

p.A535S

c.1603G>T

5 papers

NM_003242.6

p.E542K

c.1624G>A