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

8 papers

NM_004257.6

p.Y444N

c.1330T>A

Surrounding Variants

1 paper

NM_004257.6

p.K445*

c.1333A>T

1 paper

NM_004257.6

p.K454I

c.1361A>T

1 paper

NM_004257.6

p.Y431H

c.1291T>C

2 papers

NM_004257.6

p.M429R

c.1286T>G

1 paper

NM_004257.6

p.R426C

c.1276C>T

1 paper

NM_004257.6

p.A422D

c.1265C>A

1 paper

NM_004257.6

p.D466Y

c.1396G>T

2 papers

NM_004257.6

p.E471K

c.1411G>A

1 paper

NM_004257.6

p.L475P

c.1424T>C

1 paper

NM_004257.6

p.L410P

c.1229T>C

1 paper

NM_004257.6

p.A480T

c.1438G>A

1 paper

NM_004257.6

p.E484A

c.1451A>C