Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.D449E

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.D449E
c.1347C>A
Surrounding Variants
1 paper
NM_001039141.3
p.D449E
c.1347C>G
7 papers
NM_001039141.3
p.R448*
c.1342C>T
1 paper
NM_001039141.3
p.T452R
c.1355C>G
1 paper
NM_001039141.3
p.A446A
c.1338T>C
1 paper
NM_001039141.3
p.T447delFs
c.1339delA
1 paper
NM_001039141.3
p.A446T
c.1336G>A
1 paper
NM_001039141.3
p.S444S
c.1332T>C
2 papers
NM_001039141.3
p.S444N
c.1331G>A
1 paper
NM_001039141.3
p.A440_S441del1
c.1319_1321delCCT
1 paper
NM_001039141.3
p.A440_S441del2
c.1318_1322del6
1 paper
NM_001039141.3
p.R462K
c.1385G>A
1 paper
NM_001039141.3
p.A463_T466del0
c.1388_1396del9
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