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.Q169R

c.506A>G

Surrounding Variants

1 paper

NM_004257.6

p.P170L

c.509C>T

1 paper

NM_004257.6

p.L180P

c.539T>C

1 paper

NM_004257.6

p.I190F

c.568A>T

1 paper

NM_004257.6

p.H191Q

c.573C>G

1 paper

NM_004257.6

p.S194fs

c.580_581fs

1 paper

NM_004257.6

p.V197V

c.591C>G

1 paper

NM_004257.6

p.V213I

c.637G>A

1 paper

NM_004257.6

p.A123E

c.368C>A

1 paper

NM_004257.6

p.K117delFs

c.351delC

1 paper

NM_004257.6

p.E220V

c.659A>T

1 paper

NM_004257.6

p.R115H

c.344G>A

1 paper

NM_004257.6

p.G227V

c.680G>T