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.E245G

c.734A>G

Surrounding Variants

1 paper

NM_003242.6

p.L246M

c.736C>A

1 paper

NM_003242.6

p.I244insFs

c.731_732insAA

1 paper

NM_003242.6

p.I244F

c.730A>T

4 papers

NM_003242.6

p.D247V

c.740A>T

1 paper

NM_003242.6

p.P243fs

c.727_728fs

1 paper

NM_003242.6

p.L249V

c.745C>G

1 paper

NM_003242.6

p.L249L

c.745C>T

1 paper

NM_003242.6

p.L241L

c.721C>T

1 paper

NM_003242.6

p.V250insFs

c.749_750insGT

3 papers

NM_003242.6

p.V250fs

c.748_749fs

1 paper

NM_003242.6

p.V250insFs

c.750dupG

1 paper

NM_003242.6

p.V250delFs

c.750delG