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.F133S

c.398T>C

Surrounding Variants

2 papers

NM_003242.6

p.F134V

c.400T>G

1 paper

NM_003242.6

p.T132I

c.395C>T

1 paper

NM_003242.6

p.F134S

c.401T>C

1 paper

NM_003242.6

p.T132A

c.394A>G

1 paper

NM_003242.6

p.M135L

c.403A>C

1 paper

NM_003242.6

p.M135L

c.403A>T

1 paper

NM_003242.6

p.E131V

c.392A>T

1 paper

NM_003242.6

p.M135K

c.404T>A

1 paper

NM_003242.6

p.E131*

c.391G>T

1 paper

NM_003242.6

p.S137_C138del2

c.409_413del6

2 papers

NM_003242.6

p.C136S

c.406T>A

2 papers

NM_003242.6

p.C136S

c.407G>C