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.F398F

c.1194T>C

Surrounding Variants

3 papers

NM_003242.6

p.G399R

c.1195G>A

3 papers

NM_003242.6

p.G399R

c.1195G>C

1 paper

NM_003242.6

p.F398fs

c.1192_1193fs

1 paper

NM_003242.6

p.D397E

c.1191C>A

1 paper

NM_003242.6

p.D397E

c.1191C>G

3 papers

NM_003242.6

p.D397G

c.1190A>G

1 paper

NM_003242.6

p.D397V

c.1190A>T

1 paper

NM_003242.6

p.L400F

c.1198C>T

2 papers

NM_003242.6

p.D397Y

c.1189G>T

4 papers

NM_003242.6

p.C396W

c.1188T>G

1 paper

NM_003242.6

p.D397delFs

c.1189_1190delGA

5 papers

NM_003242.6

p.C396Y

c.1187G>A