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

2 papers

NM_003242.6

p.P119L

c.356C>T

Surrounding Variants

1 paper

NM_003242.6

p.K120ins1

c.359_360insAAC

1 paper

NM_003242.6

p.I122del1

c.364_365delATT

1 paper

NM_003242.6

p.A117T

c.349G>A

1 paper

NM_003242.6

p.A117S

c.349G>T

1 paper

NM_003242.6

p.I122insFs

c.365_366ins13

1 paper

NM_003242.6

p.A116T

c.346G>A

1 paper

NM_003242.6

p.I122_M123insFs

c.366_367ins13

3 papers

NM_001024847.3

p.M148L

c.442A>C

NM_003242.6

p.M123L

c.367A>C

3 papers

NM_001024847.3

p.M148L

c.442A>T

NM_003242.6

p.M123L

c.367A>T

1 paper

NM_003242.6

p.M123I

c.369G>A

1 paper

NM_003242.6

p.M123I

c.369G>C

1 paper

NM_003242.6

p.M123I

c.369G>T