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.A734V

c.2201C>T

Surrounding Variants

1 paper

NM_004257.6

p.P728delFs

c.2184delG

4 papers

NM_004257.6

p.H725R

c.2174A>G

2 papers

NM_004257.6

p.A745T

c.2233G>A

1 paper

NM_004257.6

p.S762L

c.2285C>T

1 paper

NM_004257.6

p.S704F

c.2111C>T

1 paper

NM_004257.6

p.E697K

c.2089G>A

1 paper

NM_004257.6

p.A682V

c.2045C>T

1 paper

NM_004257.6

p.A791S

c.2371G>T

1 paper

NM_004257.6

p.S809*

c.2426C>G

1 paper

NM_004257.6

p.S809*

c.2426C>A

1 paper

NM_004257.6

p.L644L

c.1932G>A

1 paper

NM_004257.6

p.L644P

c.1931T>C