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.E131*

c.391G>T

Surrounding Variants

1 paper

NM_003242.6

p.E131V

c.392A>T

1 paper

NM_003242.6

p.G130V

c.389G>T

1 paper

NM_003242.6

p.E131_N144del14

c.391_431del42

1 paper

NM_003242.6

p.T132A

c.394A>G

1 paper

NM_003242.6

p.G130C

c.388G>T

1 paper

NM_003242.6

p.T132I

c.395C>T

2 papers

NM_003242.6

p.P129H

c.386C>A

2 papers

NM_003242.6

p.P129T

c.385C>A

8 papers

NM_003242.6

p.P129fs

c.385_386fs

11 papers

NM_003242.6

p.P129fs

c.385_386fs

1 paper

NM_003242.6

p.F133S

c.398T>C

1 paper

NM_003242.6

p.K128R

c.383A>G