Varaico: Literature-Extracted Genetic Variants

Gene:PSD

PSD

308 papers

RefSeq Summary

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-r...

Pfam Domains

Sec7aa 542–708UCSCSec7 domain
PHaa 757–869UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin and Sec7 domain containing

HGNC Alias Symbols

KIAA2011; TYL; PSD1; EFA6A; EFA6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 169 variants
2 papers
NM_002779.5
p.G12V
c.35G>T
2 papers
NM_002779.5
p.C21S
c.61T>A
2 papers
NM_002779.5
p.P32R
c.95C>G
2 papers
NM_002779.5
p.P80insFs
c.239_240insC
2 papers
NM_002779.5
p.A109T
c.325G>A
2 papers
NM_002779.5
p.R297C
c.889C>T
2 papers
NM_002779.5
p.E615fs
c.1843_1844fs
2 papers
NM_002779.5
p.E615delFs
c.1843delC
2 papers
NM_002779.5
p.P771A
c.2311C>G
1 paper
NM_002779.5
p.R7C
c.19C>T
1 paper
NM_002779.5
p.M1_M6del0
c.1_18del18
1 paper
NM_002779.5
p.E11G
c.32A>G
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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."