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.C393R

c.1177T>C

Surrounding Variants

4 papers

NM_003242.6

p.C393Y

c.1178G>A

1 paper

NM_003242.6

p.C393F

c.1178G>T

1 paper

NM_003242.6

p.T392A

c.1174A>G

1 paper

NM_003242.6

p.C394fs

c.1180_1181fs

3 papers

NM_003242.6

p.C394Y

c.1181G>A

1 paper

NM_003242.6

p.C394S

c.1181G>C

7 papers

NM_003242.6

p.C394W

c.1182C>G

1 paper

NM_003242.6

p.L391L

c.1171C>T

1 paper

NM_003242.6

p.L395P

c.1184T>C

1 paper

NM_003242.6

p.D390_C393delFs

c.1170_1179del10

19 papers

NM_003242.6

p.N389N

c.1167C>T

5 papers

NM_003242.6

p.C396Y

c.1187G>A