Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R727W

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.R727W
c.2179C>T
Surrounding Variants
1 paper
NM_001039141.3
p.R726Q
c.2177G>A
3 papers
NM_001039141.3
p.R726*
c.2176C>T
1 paper
NM_001039141.3
p.D728delFs
c.2184delC
1 paper
NM_001039141.3
p.S734_R735delFs
c.2202_2203delTC
1 paper
NM_001039141.3
p.R735fs
c.2203_2204fs
1 paper
NM_001039141.3
p.E718D
c.2154G>C
1 paper
NM_001039141.3
p.R735P
c.2204G>C
1 paper
NM_001039141.3
p.E718D
c.2154G>T
2 papers
NM_001039141.3
p.Q717E
c.2149C>G
1 paper
NM_001039141.3
p.Q717*
c.2149C>T
3 papers
NM_001039141.3
p.T715I
c.2144C>T
5 papers
NM_001039141.3
p.Q740*
c.2218C>T
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