Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.S651F

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.S651F
c.1952C>T
Surrounding Variants
1 paper
NM_001039141.3
p.R654*
c.1960C>T
2 papers
NM_001039141.3
p.S647N
c.1940G>A
1 paper
NM_001039141.3
p.R655Q
c.1964G>A
1 paper
NM_001039141.3
p.D657N
c.1969G>A
1 paper
NM_001039141.3
p.Q645*
c.1933C>T
1 paper
NM_001039141.3
p.P658L
c.1973C>T
1 paper
NM_001039141.3
p.R659delFs
c.1975_1976delAG
1 paper
NM_001039141.3
p.R659fs
c.1975_1976fs
1 paper
NM_001039141.3
p.T643I
c.1928C>T
3 papers
NM_001039141.3
p.A660V
c.1979C>T
3 papers
NM_001039141.3
p.I667T
c.2000T>C
1 paper
NM_001039141.3
p.Q669*
c.2005C>T
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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."