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.P107insFs

c.321dupC

Surrounding Variants

1 paper

NM_003242.6

p.L106P

c.317T>C

1 paper

NM_003242.6

p.L106delFs

c.318delC

1 paper

NM_003242.6

p.L106fs

c.316_317fs

1 paper

NM_003242.6

p.P107H

c.320C>A

1 paper

NM_003242.6

p.P107L

c.320C>T

1 paper

NM_003242.6

p.K105fs

c.313_314fs

1 paper

NM_003242.6

p.P107P

c.321C>G

1 paper

NM_003242.6

p.Y108fs

c.322_323fs

1 paper

NM_003242.6

p.Y108C

c.323A>G

1 paper

NM_003242.6

p.P104H

c.311C>A

1 paper

NM_003242.6

p.Y108*

c.324C>A

1 paper

NM_003242.6

p.P104fs

c.310_311fs