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

7 papers

NM_003242.6

p.D412N

c.1234G>A

Surrounding Variants

1 paper

NM_003242.6

p.D412Y

c.1234G>T

1 paper

NM_003242.6

p.D411delFs

c.1231_1232delGA

1 paper

NM_003242.6

p.L413Q

c.1238T>A

4 papers

NM_003242.6

p.A414T

c.1240G>A

2 papers

NM_003242.6

p.A414P

c.1240G>C

1 paper

NM_003242.6

p.V410fs

c.1228_1229fs

1 paper

NM_003242.6

p.A414D

c.1241C>A

1 paper

NM_003242.6

p.S409F

c.1226C>T

1 paper

NM_003242.6

p.V410delFs

c.1229_1230delTG

1 paper

NM_003242.6

p.S409fs

c.1225_1226fs

1 paper

NM_003242.6

p.S416G

c.1246A>G

2 papers

NM_003242.6

p.L408M

c.1222C>A