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

65 papers

NM_003242.6

p.R528H

c.1583G>A

NM_001024847.3

p.R553H

c.1658G>A

Surrounding Variants

2 papers

NM_003242.6

p.R528P

c.1583G>C

2 papers

NM_003242.6

p.R528S

c.1582C>A

3 papers

NM_003242.6

p.R528G

c.1582C>G

49 papers

NM_003242.6

p.R528C

c.1582C>T

1 paper

NM_003242.6

p.L529delFs

c.1585delC

5 papers

NM_003242.6

p.L529F

c.1585C>T

7 papers

NM_003242.6

p.A527V

c.1580C>T

1 paper

NM_003242.6

p.L529P

c.1586T>C

1 paper

NM_003242.6

p.L529R

c.1586T>G

1 paper

NM_003242.6

p.L529L

c.1587C>T

3 papers

NM_003242.6

p.A527T

c.1579G>A

1 paper

NM_003242.6

p.T530A

c.1588A>G