Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.Q297*

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
10 papers
NM_001039141.3
p.Q297*
c.889C>T
Surrounding Variants
1 paper
NM_001039141.3
p.E298*
c.892G>T
1 paper
NM_001039141.3
p.I299_S300del2
c.895_899del6
2 papers
NM_001039141.3
p.A292fs
c.874_875fs
2 papers
NM_001039141.3
p.A292insFs
c.874dupG
1 paper
NM_001039141.3
p.Q307_E308insFs
c.920_923dup4
2 papers
NM_001039141.3
p.E308D
c.924A>C
2 papers
NM_001039141.3
p.E308D
c.924A>T
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.P281S
c.841C>T
1 paper
NM_001039141.3
p.S280_P281ins0
c.840_842dupTCC
1 paper
NM_001039141.3
p.S279C
c.836C>G
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