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

4 papers

NM_003242.6

p.V387L

c.1159G>T

Surrounding Variants

27 papers

NM_003242.6

p.V387M

c.1159G>A

NM_001024847.3

p.V412M

c.1234G>A

5 papers

NM_003242.6

p.V387L

c.1159G>C

1 paper

NM_003242.6

p.L386L

c.1158C>A

1 paper

NM_003242.6

p.V387G

c.1160T>G

1 paper

NM_003242.6

p.V387V

c.1161G>A

1 paper

NM_003242.6

p.L386H

c.1157T>A

1 paper

NM_003242.6

p.K388fs

c.1162_1163fs

1 paper

NM_003242.6

p.K388E

c.1162A>G

1 paper

NM_003242.6

p.K388R

c.1163A>G

2 papers

NM_003242.6

p.N389T

c.1166A>C

5 papers

NM_003242.6

p.N384K

c.1152T>A

5 papers

NM_003242.6

p.N384K

c.1152T>G