Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.C530C

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.C530C
c.1590C>T
Surrounding Variants
1 paper
NM_001039141.3
p.C530*
c.1590C>A
2 papers
NM_001039141.3
p.A531T
c.1591G>A
2 papers
NM_001039141.3
p.A538del1
c.1612_1614delGCC
4 papers
NM_001039141.3
p.A538_S539del2
c.1612_1616del6
5 papers
NM_001039141.3
p.S539_S540del1
c.1617_1619delCTC
5 papers
NM_001039141.3
p.R523*
c.1567C>T
3 papers
NM_001039141.3
p.S540del1
c.1618_1619delTCT
6 papers
NM_001039141.3
p.N519D
c.1555A>G
1 paper
NM_001039141.3
p.N542S
c.1625A>G
1 paper
NM_001039141.3
p.R543*
c.1627A>T
1 paper
NM_001039141.3
p.R546*
c.1636C>T
1 paper
NM_001039141.3
p.D498E
c.1494C>A
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