Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.E308D

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.E308D
c.924A>T
Surrounding Variants
2 papers
NM_001039141.3
p.E308D
c.924A>C
1 paper
NM_001039141.3
p.T309I
c.926C>T
1 paper
NM_001039141.3
p.S310P
c.928T>C
1 paper
NM_001039141.3
p.Q307_E308insFs
c.920_923dup4
1 paper
NM_001039141.3
p.T315I
c.944C>T
3 papers
NM_001039141.3
p.E317D
c.951G>C
3 papers
NM_001039141.3
p.E317D
c.951G>T
1 paper
NM_001039141.3
p.I299_S300del2
c.895_899del6
1 paper
NM_001039141.3
p.T319A
c.955A>G
1 paper
NM_001039141.3
p.E298*
c.892G>T
10 papers
NM_001039141.3
p.Q297*
c.889C>T
1 paper
NM_001039141.3
p.R321K
c.962G>A
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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."