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

15 papers

NM_003242.6

p.D524N

c.1570G>A

Surrounding Variants

2 papers

NM_003242.6

p.D524Y

c.1570G>T

1 paper

NM_003242.6

p.D524delFs

c.1571delA

1 paper

NM_003242.6

p.D524G

c.1571A>G

1 paper

NM_003242.6

p.H523fs

c.1567_1568fs

3 papers

NM_003242.6

p.P525R

c.1574C>G

4 papers

NM_003242.6

p.P525L

c.1574C>T

1 paper

NM_003242.6

p.D522A

c.1565A>C

1 paper

NM_003242.6

p.D522_Q532delFs

c.1566_1596del31

10 papers

NM_003242.6

p.D522N

c.1564G>A

11 papers

NM_003242.6

p.E526Q

c.1576G>C

1 paper

NM_003242.6

p.E526*

c.1576G>T

1 paper

NM_003242.6

p.E526A

c.1577A>C