Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R253Q

TRIOBP

399 papers

RefSeq Summary

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and con...

Pfam Domains

PHaa 1779–1887UCSCPH domain

Gene Aliases

HGNC Name

TRIO and F-actin binding protein

HGNC Previous Symbol

DFNB28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001039141.3
p.R253Q
c.758G>A
Surrounding Variants
1 paper
NM_001039141.3
p.Q258P
c.773A>C
1 paper
NM_001039141.3
p.A262T
c.784G>A
1 paper
NM_001039141.3
p.A243P
c.727G>C
1 paper
NM_001039141.3
p.T241I
c.722C>T
1 paper
NM_001039141.3
p.L240L
c.718C>T
2 papers
NM_001039141.3
p.Q268_A269delFs
c.802_805del4
2 papers
NM_001039141.3
p.Q268fs
c.802_803fs
3 papers
NM_001039141.3
p.Q268fs
c.802_803fs
2 papers
NM_001039141.3
p.R237W
c.709C>T
1 paper
NM_001039141.3
p.T272K
c.815C>A
1 paper
NM_001039141.3
p.R273H
c.818G>A
1 paper
NM_001039141.3
p.L233insFs
c.697_698insA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."