Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.P1516A

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.P1516A
c.4546C>G
Surrounding Variants
1 paper
NM_001039141.3
p.G1521R
c.4561G>C
2 papers
NM_001039141.3
p.R1504G
c.4510A>G
1 paper
NM_001039141.3
p.P1503S
c.4507C>T
1 paper
NM_001039141.3
p.E1496K
c.4486G>A
2 papers
NM_001039141.3
p.E1495V
c.4484A>T
1 paper
NM_001039141.3
p.W1539delFs
c.4615delT
1 paper
NM_001039141.3
p.W1539fs
c.4615_4616fs
2 papers
NM_001039141.3
p.S1481F
c.4442C>T
1 paper
NM_001039141.3
p.T1480fs
c.4438_4439fs
2 papers
NM_001039141.3
p.G1479fs
c.4435_4436fs
1 paper
NM_001039141.3
p.G1478A
c.4433G>C
1 paper
NM_001039141.3
p.R1554*
c.4660C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."