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.D92N

c.274G>A

Surrounding Variants

1 paper

NM_003242.6

p.D92H

c.274G>C

1 paper

NM_003242.6

p.D92Y

c.274G>T

1 paper

NM_003242.6

p.D92insFs

c.276dupC

1 paper

NM_003242.6

p.D92D

c.276C>T

1 paper

NM_003242.6

p.N91D

c.271A>G

1 paper

NM_003242.6

p.E93fs

c.277_278fs

1 paper

NM_003242.6

p.R89K

c.266G>A

1 paper

NM_003242.6

p.R89I

c.266G>T

1 paper

NM_003242.6

p.I95ins1

c.284_285insAAC

1 paper

NM_003242.6

p.W88Splc

c.264-1G>A

1 paper

NM_003242.6

p.T96S

c.286A>T

4 papers

NM_003242.6

p.T96I

c.287C>T

NM_001024847.3

p.T121I

c.362C>T