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.R370S

c.1110G>C

Surrounding Variants

1 paper

NM_003242.6

p.P371fs

c.1111_1112fs

1 paper

NM_003242.6

p.K372E

c.1114A>G

2 papers

NM_003242.6

p.G369E

c.1106G>A

2 papers

NM_003242.6

p.G369V

c.1106G>T

3 papers

NM_003242.6

p.K372R

c.1115A>G

1 paper

NM_003242.6

p.K372N

c.1116G>C

1 paper

NM_003242.6

p.K372N

c.1116G>T

3 papers

NM_003242.6

p.M373_P374insA

c.1117_1121ins3

1 paper

NM_003242.6

p.M373V

c.1117A>G

1 paper

NM_003242.6

p.C368Y

c.1103G>A

7 papers

NM_003242.6

p.M373I

c.1119G>A

7 papers

NM_003242.6

p.M373I

c.1119G>C