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.D405G

c.1214A>G

Surrounding Variants

1 paper

NM_003242.6

p.D405N

c.1213G>A

2 papers

NM_003242.6

p.L404P

c.1211T>C

1 paper

NM_003242.6

p.T407P

c.1219A>C

4 papers

NM_001024847.3

p.R428H

c.1283G>A

NM_003242.6

p.R403H

c.1208G>A

1 paper

NM_003242.6

p.R403S

c.1207C>A

3 papers

NM_003242.6

p.R403C

c.1207C>T

2 papers

NM_003242.6

p.L408M

c.1222C>A

1 paper

NM_003242.6

p.L408insFs

c.1223dupT

1 paper

NM_003242.6

p.L402L

c.1206G>A

1 paper

NM_003242.6

p.S409fs

c.1225_1226fs

2 papers

NM_003242.6

p.S401F

c.1202C>T

1 paper

NM_003242.6

p.S409F

c.1226C>T