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.M1insFs

c.2_3insT

Surrounding Variants

2 papers

NM_003242.6

p.M1fs

c.1_2fs

1 paper

NM_003242.6

p.M1L

c.1A>C

1 paper

NM_003242.6

p.M1L

c.1A>T

2 papers

NM_003242.6

p.M1T

c.2T>C

1 paper

NM_003242.6

p.M1R

c.2T>G

1 paper

NM_003242.6

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_003242.6

p.M1_G2insFs

c.3_4insA

1 paper

NM_003242.6

p.M1Fs

c.3delinsTTTTAGATCCATFs

2 papers

NM_003242.6

p.G2C

c.4G>T

1 paper

NM_003242.6

p.G2D

c.5G>A

1 paper

NM_003242.6

p.G2_L6delFs

c.6_16del11

1 paper

NM_003242.6

p.R3R

c.7C>A