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

5 papers

NM_003242.6

p.G351D

c.1052G>A

Surrounding Variants

1 paper

NM_003242.6

p.G351R

c.1051G>C

1 paper

NM_001024847.3

p.S377N

c.1130G>A

1 paper

NM_003242.6

p.K349fs

c.1045_1046fs

2 papers

NM_003242.6

p.K349E

c.1045A>G

1 paper

NM_003242.6

p.K349*

c.1045A>T

1 paper

NM_003242.6

p.S353S

c.1059C>T

1 paper

NM_003242.6

p.L354I

c.1060C>A

2 papers

NM_003242.6

p.R348H

c.1043G>A

1 paper

NM_003242.6

p.L354P

c.1061T>C

3 papers

NM_001024847.3

p.L379L

c.1137C>T

NM_003242.6

p.L354L

c.1062C>T

1 paper

NM_003242.6

p.R348C

c.1042C>T

1 paper

NM_003242.6

p.A355T

c.1063G>A