Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.A1002fs

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.A1002fs
c.3004_3005fs
Surrounding Variants
1 paper
NM_001039141.3
p.A1002delFs
c.3004delG
5 papers
NM_001039141.3
p.A998T
c.2992G>A
1 paper
NM_001039141.3
p.Y996*
c.2988C>A
1 paper
NM_001039141.3
p.Y996*
c.2988C>G
6 papers
NM_001039141.3
p.R990*
c.2968C>T
1 paper
NM_001039141.3
p.C1017Y
c.3050G>A
13 papers
NM_001039141.3
p.G1019R
c.3055G>A
11 papers
NM_001039141.3
p.G1019R
c.3055G>C
1 paper
NM_001039141.3
p.G984D
c.2951G>A
1 paper
NM_001039141.3
p.A1023S
c.3067G>T
2 papers
NM_001039141.3
p.A1023V
c.3068C>T
2 papers
NM_001039141.3
p.R1025*
c.3073C>T
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