Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.S468_P469insFs

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.S468_P469insFs
c.1404_1405insG
Surrounding Variants
1 paper
NM_001039141.3
p.P469insFs
c.1405_1406insG
1 paper
NM_001039141.3
p.N470S
c.1409A>G
5 papers
NM_001039141.3
p.R474*
c.1420C>T
1 paper
NM_001039141.3
p.A463_T466del0
c.1388_1396del9
1 paper
NM_001039141.3
p.R462K
c.1385G>A
2 papers
NM_001039141.3
p.R478T
c.1433G>C
1 paper
NM_001039141.3
p.C481C
c.1443T>C
1 paper
NM_001039141.3
p.T452R
c.1355C>G
1 paper
NM_001039141.3
p.D449E
c.1347C>A
1 paper
NM_001039141.3
p.D449E
c.1347C>G
7 papers
NM_001039141.3
p.R448*
c.1342C>T
1 paper
NM_001039141.3
p.S491del1
c.1471_1472delTCT
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