Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.N784S

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.N784S
c.2351A>G
Surrounding Variants
7 papers
NM_001039141.3
p.R785_A786delFs
c.2355_2356delAG
2 papers
NM_001039141.3
p.R785fs
c.2353_2354fs
5 papers
NM_001039141.3
p.R785fs
c.2353_2354fs
10 papers
NM_001039141.3
p.R788*
c.2362C>T
1 paper
NM_001039141.3
p.R788Q
c.2363G>A
1 paper
NM_001039141.3
p.R779delFs
c.2335_2336delAG
1 paper
NM_001039141.3
p.R792_T793delFs
c.2375_2379del5
1 paper
NM_001039141.3
p.R774R
c.2320C>A
2 papers
NM_001039141.3
p.R774*
c.2320C>T
2 papers
NM_001039141.3
p.R774delFs
c.2321delG
1 paper
NM_001039141.3
p.R774fs
c.2320_2321fs
2 papers
NM_001039141.3
p.C772R
c.2314T>C
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