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

2 papers

NM_004257.6

p.H271Q

c.813C>A

Surrounding Variants

2 papers

NM_004257.6

p.H271Q

c.813C>G

1 paper

NM_004257.6

p.V270A

c.809T>C

1 paper

NM_004257.6

p.M273I

c.819G>T

1 paper

NM_004257.6

p.M273I

c.819G>C

1 paper

NM_004257.6

p.M273I

c.819G>A

1 paper

NM_004257.6

p.I268_T269ins0

c.803_805dupTCA

1 paper

NM_004257.6

p.I268I

c.804C>A

1 paper

NM_004257.6

p.V260F

c.778G>T

1 paper

NM_004257.6

p.A254S

c.760G>T

1 paper

NM_004257.6

p.V250M

c.748G>A

1 paper

NM_004257.6

p.N249Y

c.745A>T

1 paper

NM_004257.6

p.S247S

c.741G>A