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.E114_D115insA

c.340_344ins3

Surrounding Variants

1 paper

NM_003242.6

p.E114delFs

c.341_342delAA

1 paper

NM_003242.6

p.E114A

c.341A>C

1 paper

NM_003242.6

p.E114G

c.341A>G

1 paper

NM_003242.6

p.A116T

c.346G>A

1 paper

NM_003242.6

p.A117T

c.349G>A

1 paper

NM_003242.6

p.A117S

c.349G>T

1 paper

NM_003242.6

p.F111L

c.331T>C

8 papers

NM_003242.6

p.D110V

c.329A>T

3 papers

NM_003242.6

p.H109H

c.327T>C

1 paper

NM_003242.6

p.H109Y

c.325C>T

1 paper

NM_003242.6

p.Y108*

c.324C>A

1 paper

NM_003242.6

p.Y108*

c.324C>G