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.I219V

c.655A>G

Surrounding Variants

1 paper

NM_003242.6

p.L220_D226delFs

c.659_677del19

1 paper

NM_001024847.3

p.E246K

c.736G>A

1 paper

NM_003242.6

p.A217P

c.649G>C

1 paper

NM_003242.6

p.E221A

c.662A>C

1 paper

NM_003242.6

p.D222Y

c.664G>T

2 papers

NM_003242.6

p.D222G

c.665A>G

1 paper

NM_003242.6

p.H215R

c.644A>G

1 paper

NM_003242.6

p.H215Y

c.643C>T

1 paper

NM_003242.6

p.D223A

c.668A>C

1 paper

NM_003242.6

p.E214A

c.641A>C

1 paper

NM_003242.6

p.R224C

c.670C>T

1 paper

NM_003242.6

p.E214K

c.640G>A