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.W344*

c.1031G>A

Surrounding Variants

1 paper

NM_003242.6

p.W344*

c.1032G>A

1 paper

NM_003242.6

p.W344C

c.1032G>C

1 paper

NM_003242.6

p.W344C

c.1032G>T

1 paper

NM_001024847.3

p.E370K

c.1108G>A

1 paper

NM_003242.6

p.E345D

c.1035G>C

1 paper

NM_003242.6

p.E345D

c.1035G>T

1 paper

NM_003242.6

p.I342N

c.1025T>A

3 papers

NM_003242.6

p.L347P

c.1040T>C

1 paper

NM_003242.6

p.V341delFs

c.1023delC

1 paper

NM_003242.6

p.L347delFs

c.1041delG

1 paper

NM_003242.6

p.V341_I342del1

c.1022_1024delTCA

1 paper

NM_003242.6

p.R348C

c.1042C>T