Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.P354H

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
1 paper
NM_001039141.3
p.P354H
c.1061C>A
Surrounding Variants
18 papers
NM_001039141.3
p.R347*
c.1039C>T
1 paper
NM_001039141.3
p.S344T
c.1030T>A
1 paper
NM_001039141.3
p.F368Fs
c.1103_1104delinsCFs
1 paper
NM_001039141.3
p.N338Y
c.1012A>T
1 paper
NM_001039141.3
p.T370T
c.1110T>C
1 paper
NM_001039141.3
p.T372I
c.1115C>T
1 paper
NM_001039141.3
p.Q326L
c.977A>T
2 papers
NM_001039141.3
p.A322V
c.965C>T
6 papers
NM_001039141.3
p.A322S
c.964G>T
1 paper
NM_001039141.3
p.D387delFs
c.1160delA
1 paper
NM_001039141.3
p.R321K
c.962G>A
1 paper
NM_001039141.3
p.R389*
c.1165A>T
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