Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R422R

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.R422R
c.1264A>C
Surrounding Variants
1 paper
NM_001039141.3
p.R422K
c.1265G>A
2 papers
NM_001039141.3
p.R425*
c.1273C>T
1 paper
NM_001039141.3
p.T417N
c.1250C>A
1 paper
NM_001039141.3
p.R416delFs
c.1247delG
1 paper
NM_001039141.3
p.P428R
c.1283C>G
2 papers
NM_001039141.3
p.A414V
c.1241C>T
4 papers
NM_001039141.3
p.K413R
c.1238A>G
1 paper
NM_001039141.3
p.S431Y
c.1292C>A
2 papers
NM_001039141.3
p.R409Q
c.1226G>A
2 papers
NM_001039141.3
p.D436N
c.1306G>A
1 paper
NM_001039141.3
p.A407G
c.1220C>G
1 paper
NM_001039141.3
p.A440_S441del2
c.1318_1322del6
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."