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

7 papers

NM_003242.6

p.Q511*

c.1531C>T

Surrounding Variants

2 papers

NM_003242.6

p.I510S

c.1529T>G

1 paper

NM_003242.6

p.M512fs

c.1534_1535fs

1 paper

NM_003242.6

p.I510F

c.1528A>T

1 paper

NM_003242.6

p.G509D

c.1526G>A

1 paper

NM_003242.6

p.M512I

c.1536G>A

7 papers

NM_003242.6

p.G509V

c.1526G>T

1 paper

NM_003242.6

p.Q508_G509Splc

c.1525-1G>C

4 papers

NM_003242.6

p.V513A

c.1538T>C

NM_001024847.3

p.V538A

c.1613T>C

4 papers

NM_003242.6

p.C514R

c.1540T>C

1 paper

NM_003242.6

p.C514_E515delFs

c.1542_1545del4

1 paper

NM_003242.6

p.T516_E519del0

c.1546_1557del12

1 paper

NM_003242.6

p.C514*

c.1542T>A