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

8 papers

NM_003242.6

p.G4G

c.12G>C

Surrounding Variants

3 papers

NM_003242.6

p.G4G

c.12G>A

1 paper

NM_003242.6

p.L6_L16del11

c.16_47del33

1 paper

NM_003242.6

p.G4R

c.10G>A

1 paper

NM_003242.6

p.G4R

c.10G>C

1 paper

NM_003242.6

p.G4W

c.10G>T

2 papers

NM_003242.6

p.L5L

c.15G>A

2 papers

NM_003242.6

p.R3Q

c.8G>A

1 paper

NM_003242.6

p.R3R

c.7C>A

1 paper

NM_003242.6

p.R3G

c.7C>G

1 paper

NM_003242.6

p.R3delFs

c.8delG

1 paper

NM_003242.6

p.G2D

c.5G>A

1 paper

NM_003242.6

p.G2_L6delFs

c.6_16del11