Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.L1613_P1615del3

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
4 papers
NM_001039141.3
p.L1613_P1615del3
c.4837_4844del9
Surrounding Variants
2 papers
NM_001039141.3
p.E1612_G1614del3
c.4834_4841del9
4 papers
NM_001039141.3
p.G1614C
c.4840G>T
1 paper
NM_001039141.3
p.L1609S
c.4826T>C
1 paper
NM_001039141.3
p.G1617_N1619del3
c.4849_4856del9
1 paper
NM_001039141.3
p.T1618_D1620del3
c.4852_4859del9
1 paper
NM_001039141.3
p.D1603D
c.4809T>C
1 paper
NM_001039141.3
p.A1599G
c.4796C>G
1 paper
NM_001039141.3
p.E1635K
c.4903G>A
1 paper
NM_001039141.3
p.T1637S
c.4909A>T
1 paper
NM_001039141.3
p.T1637S
c.4910C>G
1 paper
NM_001039141.3
p.N1640S
c.4919A>G
5 papers
NM_001039141.3
p.R1576C
c.4726C>T
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