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.P25R

c.74C>G

Surrounding Variants

2 papers

NM_003242.6

p.P25S

c.73C>T

1 paper

NM_003242.6

p.P26fs

c.76_77fs

1 paper

NM_003242.6

p.I24T

c.71T>C

1 paper

NM_003242.6

p.I24fs

c.70_71fs

1 paper

NM_003242.6

p.T23T

c.69G>T

2 papers

NM_003242.6

p.T23M

c.68C>T

1 paper

NM_003242.6

p.T23delFs

c.68delC

1 paper

NM_003242.6

p.T23fs

c.67_68fs

1 paper

NM_003242.6

p.H27Q

c.81C>A

1 paper

NM_003242.6

p.H27Q

c.81C>G

1 paper

NM_003242.6

p.V28I

c.82G>A

1 paper

NM_003242.6

p.V28F

c.82G>T