Varaico: Literature-Extracted Genetic Variants

TGFBRAP1

147 papers

RefSeq Summary

This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of...

Pfam Domains

CNHaa 34–292UCSCCNH domain

Vps39_1aa 448–550UCSCVacuolar sorting protein 39 domain 1

zf-Vps39_Caa 807–847UCSCVacuolar sorting protein 39 C-terminal zinc finger domain

Gene Aliases

HGNC Name

transforming growth factor beta receptor associated protein 1

HGNC Alias Symbol

TRAP-1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

8 papers

NM_004257.6

p.Y444N

c.1330T>A

4 papers

NM_004257.6

p.H725R

c.2174A>G

3 papers

NM_004257.6

p.R602*

c.1804A>T

2 papers

NM_004257.6

p.H271Q

c.813C>G

2 papers

NM_004257.6

p.H271Q

c.813C>A

2 papers

NM_004257.6

p.M429R

c.1286T>G

2 papers

NM_004257.6

p.E471K

c.1411G>A

2 papers

NM_004257.6

p.A745T

c.2233G>A

1 paper

NM_004257.6

p.S3I

c.8G>T

1 paper

NM_004257.6

p.L9F

c.25C>T

1 paper

NM_004257.6

p.E14A

c.41A>C

1 paper

NM_004257.6

p.R15G

c.43C>G