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

2 papers

NM_003242.6

p.H362Y

c.1084C>T

Surrounding Variants

1 paper

NM_003242.6

p.H362N

c.1084C>A

4 papers

NM_003242.6

p.H362R

c.1085A>G

1 paper

NM_003242.6

p.L361I

c.1081C>A

1 paper

NM_003242.6

p.L361V

c.1081C>G

3 papers

NM_003242.6

p.H360P

c.1079A>C

1 paper

NM_003242.6

p.S363_C368delins

c.1089_1104delinsCGACCACACCCTGTGC

1 paper

NM_003242.6

p.D364N

c.1090G>A

1 paper

NM_003242.6

p.A359V

c.1076C>T

1 paper

NM_003242.6

p.D364D

c.1092T>C

1 paper

NM_003242.6

p.H365_T366ins13

c.1093_1097ins39

1 paper

NM_003242.6

p.H365D

c.1093C>G

1 paper

NM_003242.6

p.A359_H360insAAC

c.1075_1079ins9