Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.I819T

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.I819T
c.2456T>C
Surrounding Variants
1 paper
NM_001039141.3
p.T817S
c.2450C>G
1 paper
NM_001039141.3
p.T817S
c.2449A>T
1 paper
NM_001039141.3
p.S826L
c.2477C>T
1 paper
NM_001039141.3
p.S827F
c.2480C>T
1 paper
NM_001039141.3
p.S828_T829insAG
c.2482_2486ins6
3 papers
NM_001039141.3
p.L801P
c.2402T>C
1 paper
NM_001039141.3
p.R798W
c.2392C>T
5 papers
NM_001039141.3
p.R841*
c.2521C>T
1 paper
NM_001039141.3
p.Q797R
c.2390A>G
1 paper
NM_001039141.3
p.R841R
c.2523A>C
1 paper
NM_001039141.3
p.D842E
c.2526T>A
1 paper
NM_001039141.3
p.D842E
c.2526T>G
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