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.K556E

c.1666A>G

Surrounding Variants

1 paper

NM_001024847.3

p.K581R

c.1742A>G

NM_003242.6

p.K556R

c.1667A>G

1 paper

NM_003242.6

p.I557V

c.1669A>G

1 paper

NM_003242.6

p.E554K

c.1660G>A

1 paper

NM_003242.6

p.S553*

c.1658C>A

1 paper

NM_003242.6

p.S553L

c.1658C>T

1 paper

NM_003242.6

p.P558P

c.1674T>C

1 paper

NM_003242.6

p.E559K

c.1675G>A

12 papers

NM_003242.6

p.S553T

c.1657T>A

NM_001024847.3

p.S578T

c.1732T>A

1 paper

NM_003242.6

p.D560N

c.1678G>A

1 paper

NM_003242.6

p.D560Y

c.1678G>T

1 paper

NM_003242.6

p.R550M

c.1649G>T

1 paper

NM_003242.6

p.G549R

c.1645G>A