Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP

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
1–12 of 597 variants
18 papers
NM_001039141.3
p.R347*
c.1039C>T
13 papers
NM_001039141.3
p.G1019R
c.3055G>A
13 papers
NM_001039141.3
p.R1068*
c.3202C>T
12 papers
NM_001039141.3
p.G1672*
c.5014G>T
11 papers
NM_001039141.3
p.Q581*
c.1741C>T
11 papers
NM_001039141.3
p.G1019R
c.3055G>C
10 papers
NM_001039141.3
p.Q297*
c.889C>T
10 papers
NM_001039141.3
p.R788*
c.2362C>T
10 papers
NM_001039141.3
p.R861*
c.2581C>T
10 papers
NM_001039141.3
p.R920*
c.2758C>T
10 papers
NM_001039141.3
p.R1078insFs
c.3232dupC
8 papers
NM_001039141.3
p.Q398del1
c.1192_1193delCAA
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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."