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.E431*

c.1291G>T

Surrounding Variants

1 paper

NM_003242.6

p.V429V

c.1287C>A

1 paper

NM_003242.6

p.S432F

c.1295C>T

1 paper

NM_003242.6

p.V429I

c.1285G>A

1 paper

NM_003242.6

p.E428_N438delFs

c.1283_1313del31

4 papers

NM_003242.6

p.M434T

c.1301T>C

7 papers

NM_003242.6

p.P427L

c.1280C>T

12 papers

NM_003242.6

p.P427S

c.1279C>T

1 paper

NM_003242.6

p.N435T

c.1304A>C

4 papers

NM_003242.6

p.N435S

c.1304A>G

3 papers

NM_003242.6

p.A426D

c.1277C>A

3 papers

NM_003242.6

p.A426G

c.1277C>G

4 papers

NM_003242.6

p.A426V

c.1277C>T