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.P111H

c.332C>A

Surrounding Variants

1 paper

NM_004257.6

p.E108K

c.322G>A

1 paper

NM_004257.6

p.R115H

c.344G>A

1 paper

NM_004257.6

p.N106D

c.316A>G

1 paper

NM_004257.6

p.K117delFs

c.351delC

1 paper

NM_004257.6

p.A123E

c.368C>A

1 paper

NM_004257.6

p.R83R

c.249T>C

1 paper

NM_004257.6

p.R83R

c.249T>A

1 paper

NM_004257.6

p.E81V

c.242A>T

1 paper

NM_004257.6

p.E81G

c.242A>G

1 paper

NM_004257.6

p.V79V

c.237G>C

1 paper

NM_004257.6

p.K77*

c.229A>T

1 paper

NM_004257.6

p.L73V

c.217T>G