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.Y281_E283del0

c.841_849del9

Surrounding Variants

1 paper

NM_003242.6

p.F279L

c.837T>A

1 paper

NM_003242.6

p.F279L

c.837T>G

1 paper

NM_003242.6

p.E282K

c.844G>A

1 paper

NM_003242.6

p.E282*

c.844G>T

1 paper

NM_003242.6

p.F279L

c.835T>C

1 paper

NM_003242.6

p.F279fs

c.835_836fs

1 paper

NM_003242.6

p.I278M

c.834C>G

2 papers

NM_003242.6

p.E283G

c.848A>G

6 papers

NM_003242.6

p.K277N

c.831G>C

6 papers

NM_003242.6

p.K277N

c.831G>T

9 papers

NM_003242.6

p.K277R

c.830A>G

1 paper

NM_003242.6

p.Y284_A285insAAC

c.850_854ins9