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.S268P

c.802T>C

Surrounding Variants

1 paper

NM_003242.6

p.S268fs

c.802_803fs

2 papers

NM_003242.6

p.S268*

c.803C>A

2 papers

NM_003242.6

p.S268*

c.803C>G

1 paper

NM_003242.6

p.T267insFs

c.801dupT

2 papers

NM_003242.6

p.T267P

c.799A>C

1 paper

NM_003242.6

p.E269*

c.805G>T

1 paper

NM_003242.6

p.Q265H

c.795G>C

1 paper

NM_003242.6

p.Q265H

c.795G>T

1 paper

NM_003242.6

p.K264fs

c.790_791fs

1 paper

NM_003242.6

p.K264E

c.790A>G

1 paper

NM_003242.6

p.E272V

c.815A>T

1 paper

NM_003242.6

p.L263P

c.788T>C