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.K124E

c.370A>G

Surrounding Variants

1 paper

NM_003242.6

p.E125delFs

c.373delG

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

1 paper

NM_003242.6

p.E125_K128del4

c.373_383del12

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

2 papers

NM_003242.6

p.E125K

c.373G>A

1 paper

NM_003242.6

p.E125Q

c.373G>C

24 papers

NM_003242.6

p.K128insFs

c.383dupA

18 papers

NM_003242.6

p.E125fs

c.373_374fs

27 papers

NM_003242.6

p.K128delFs

c.383delA

NM_001024847.3

p.E125delFs

c.374delA