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.N332S

c.995A>G

Surrounding Variants

1 paper

NM_003242.6

p.L333Q

c.998T>A

1 paper

NM_003242.6

p.L333P

c.998T>C

1 paper

NM_003242.6

p.L333L

c.999A>G

1 paper

NM_003242.6

p.K330fs

c.988_989fs

1 paper

NM_003242.6

p.E335K

c.1003G>A

1 paper

NM_003242.6

p.E335Fs

c.1003delinsGAFs

2 papers

NM_003242.6

p.E335_Y336del1

c.1005_1007delGTA

1 paper

NM_003242.6

p.A329V

c.986C>T

10 papers

NM_003242.6

p.A329T

c.985G>A

21 papers

NM_003242.6

p.Y336N

c.1006T>A

1 paper

NM_003242.6

p.Y336D

c.1006T>G

2 papers

NM_001024847.3

p.Y361C

c.1082A>G

NM_003242.6

p.Y336C

c.1007A>G