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.K585fs

c.1753_1754fs

Surrounding Variants

1 paper

NM_004257.6

p.K584K

c.1752A>G

1 paper

NM_004257.6

p.P587L

c.1760C>T

3 papers

NM_004257.6

p.R602*

c.1804A>T

1 paper

NM_004257.6

p.Q604H

c.1812G>C

1 paper

NM_004257.6

p.Y608H

c.1822T>C

1 paper

NM_004257.6

p.E619K

c.1855G>A

1 paper

NM_004257.6

p.L622Q

c.1865T>A

1 paper

NM_004257.6

p.R624M

c.1871G>T

1 paper

NM_004257.6

p.S626F

c.1877C>T

1 paper

NM_004257.6

p.E633K

c.1897G>A

1 paper

NM_004257.6

p.Q638K

c.1912C>A

1 paper

NM_004257.6

p.L641L

c.1921C>T