Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.S1429N

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.S1429N
c.4286G>A
Surrounding Variants
1 paper
NM_001039141.3
p.E1431*
c.4291G>T
1 paper
NM_001039141.3
p.H1440_R1441delFs
c.4320_4321delTA
1 paper
NM_001039141.3
p.R1445G
c.4333A>G
1 paper
NM_001039141.3
p.P1412H
c.4235C>A
1 paper
NM_001039141.3
p.E1404_R1405insG
c.4210_4214ins3
1 paper
NM_001039141.3
p.R1397R
c.4191G>A
5 papers
NM_001039141.3
p.P1396R
c.4187C>G
1 paper
NM_001039141.3
p.P1396L
c.4187C>T
1 paper
NM_001039141.3
p.S1392S
c.4176C>T
1 paper
NM_001039141.3
p.L1389I
c.4165C>A
1 paper
NM_001039141.3
p.Q1388_P1396del9
c.4162_4187del27
1 paper
NM_001039141.3
p.R1387W
c.4159C>T
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