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.L305R

c.914T>G

Surrounding Variants

1 paper

NM_003242.6

p.L305H

c.914T>A

1 paper

NM_003242.6

p.L305P

c.914T>C

1 paper

NM_003242.6

p.L305V

c.913C>G

2 papers

NM_003242.6

p.L305F

c.913C>T

1 paper

NM_003242.6

p.L305_Q306delins

c.915_916delinsTCATG

1 paper

NM_003242.6

p.Q306_L308del0

c.916_924del9

1 paper

NM_003242.6

p.Q306*

c.916C>T

2 papers

NM_001024847.3

p.I329T

c.986T>C

NM_003242.6

p.I304T

c.911T>C

1 paper

NM_003242.6

p.Q306_F307insFs

c.918_919insGA

1 paper

NM_003242.6

p.N303H

c.907A>C

1 paper

NM_003242.6

p.F307L

c.921C>G

2 papers

NM_003242.6

p.E302D

c.906G>T