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.E240fs

c.718_719fs

Surrounding Variants

1 paper

NM_003242.6

p.T239_E240delFs

c.717_718delAG

1 paper

NM_003242.6

p.L241L

c.721C>T

2 papers

NM_003242.6

p.N238N

c.714C>T

2 papers

NM_003242.6

p.T239_L241delFs

c.715_722del8

1 paper

NM_003242.6

p.P243fs

c.727_728fs

2 papers

NM_003242.6

p.N236D

c.706A>G

1 paper

NM_003242.6

p.I244F

c.730A>T

1 paper

NM_003242.6

p.I244insFs

c.731_732insAA

1 paper

NM_003242.6

p.I235fs

c.703_704fs

1 paper

NM_003242.6

p.E245G

c.734A>G

1 paper

NM_003242.6

p.L246M

c.736C>A

1 paper

NM_003242.6

p.N233_N234insGG

c.697_701ins6