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.L172R

c.515T>G

Surrounding Variants

1 paper

NM_003242.6

p.L172fs

c.514_515fs

1 paper

NM_003242.6

p.L173M

c.517C>A

1 paper

NM_003242.6

p.L173P

c.518T>C

1 paper

NM_003242.6

p.I170M

c.510C>G

1 paper

NM_003242.6

p.I170V

c.508A>G

3 papers

NM_003242.6

p.P175R

c.524C>G

1 paper

NM_003242.6

p.P175L

c.524C>T

1 paper

NM_003242.6

p.G169R

c.505G>C

1 paper

NM_003242.6

p.L176fs

c.526_527fs

2 papers

NM_003242.6

p.L176L

c.526C>T

1 paper

NM_003242.6

p.G177R

c.529G>A

1 paper

NM_003242.6

p.G177R

c.529G>C