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

2 papers

NM_003242.6

p.K381E

c.1141A>G

Surrounding Variants

1 paper

NM_003242.6

p.K381R

c.1142A>G

1 paper

NM_003242.6

p.S382_S383del2

c.1144_1148del6

1 paper

NM_003242.6

p.L380R

c.1139T>G

1 paper

NM_003242.6

p.S382R

c.1144A>C

1 paper

NM_003242.6

p.L380V

c.1138C>G

1 paper

NM_003242.6

p.D379D

c.1137C>T

1 paper

NM_003242.6

p.S382N

c.1145G>A

1 paper

NM_003242.6

p.D379A

c.1136A>C

6 papers

NM_003242.6

p.D379V

c.1136A>T

1 paper

NM_003242.6

p.S382R

c.1146C>A

1 paper

NM_003242.6

p.S382R

c.1146C>G

1 paper

NM_003242.6

p.D379Y

c.1135G>T