Varaico: Literature-Extracted Genetic Variants

Gene:TGFBRAP1
Variant:p.M429R

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
2 papers
NM_004257.6
p.M429R
c.1286T>G
Surrounding Variants
1 paper
NM_004257.6
p.Y431H
c.1291T>C
1 paper
NM_004257.6
p.R426C
c.1276C>T
1 paper
NM_004257.6
p.A422D
c.1265C>A
8 papers
NM_004257.6
p.Y444N
c.1330T>A
1 paper
NM_004257.6
p.K445*
c.1333A>T
1 paper
NM_004257.6
p.L410P
c.1229T>C
1 paper
NM_004257.6
p.K454I
c.1361A>T
1 paper
NM_004257.6
p.R399Q
c.1196G>A
1 paper
NM_004257.6
p.R399W
c.1195C>T
1 paper
NM_004257.6
p.T398N
c.1193C>A
1 paper
NM_004257.6
p.S395S
c.1185C>G
1 paper
NM_004257.6
p.D466Y
c.1396G>T
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