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

6 papers

NM_003242.6

p.C461R

c.1381T>C

Surrounding Variants

1 paper

NM_003242.6

p.C461_V464delFs

c.1382_1392del11

10 papers

NM_003242.6

p.C461Y

c.1382G>A

45 papers

NM_001024847.3

p.R485H

c.1454G>A

NM_003242.6

p.R460H

c.1379G>A

2 papers

NM_003242.6

p.R460P

c.1379G>C

4 papers

NM_003242.6

p.R460L

c.1379G>T

1 paper

NM_003242.6

p.C461*

c.1383T>A

1 paper

NM_003242.6

p.R460G

c.1378C>G

23 papers

NM_003242.6

p.R460C

c.1378C>T

2 papers

NM_003242.6

p.S459Y

c.1376C>A

1 paper

NM_003242.6

p.S459F

c.1376C>T

1 paper

NM_003242.6

p.A463_V464insFs

c.1389_1390insA

1 paper

NM_003242.6

p.A463A

c.1389A>G