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.T309T

c.927G>C

Surrounding Variants

1 paper

NM_003242.6

p.T309T

c.927G>T

1 paper

NM_003242.6

p.T309R

c.926C>G

1 paper

NM_003242.6

p.T309M

c.926C>T

1 paper

NM_003242.6

p.A310S

c.928G>T

20 papers

NM_003242.6

p.L308P

c.923T>C

1 paper

NM_003242.6

p.F307L

c.921C>G

4 papers

NM_003242.6

p.E312K

c.934G>A

1 paper

NM_003242.6

p.Q306_F307insFs

c.918_919insGA

1 paper

NM_003242.6

p.R313W

c.937C>T

1 paper

NM_003242.6

p.Q306*

c.916C>T

1 paper

NM_003242.6

p.R313Q

c.938G>A

1 paper

NM_003242.6

p.R313L

c.938G>T