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

Selected Variant

1 paper

NM_004257.6

p.E14A

c.41A>C

Surrounding Variants

1 paper

NM_004257.6

p.R15G

c.43C>G

1 paper

NM_004257.6

p.R15Q

c.44G>A

1 paper

NM_004257.6

p.L9F

c.25C>T

1 paper

NM_004257.6

p.K22*

c.64A>T

1 paper

NM_004257.6

p.S3I

c.8G>T

1 paper

NM_004257.6

p.C33Y

c.98G>A

1 paper

NM_004257.6

p.L37F

c.109C>T

1 paper

NM_004257.6

p.D43Y

c.127G>T

1 paper

NM_004257.6

p.D43_V46insFs

c.127_137dup11

1 paper

NM_004257.6

p.V56M

c.166G>A

1 paper

NM_004257.6

p.H72Y

c.214C>T

1 paper

NM_004257.6

p.L73V

c.217T>G