Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.G122G

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
Selected Variant
1 paper
NM_002779.5
p.G122G
c.366C>A
Surrounding Variants
1 paper
NM_002779.5
p.S124G
c.370A>G
1 paper
NM_002779.5
p.S124insFs
c.372dupT
2 papers
NM_002779.5
p.A109T
c.325G>A
1 paper
NM_002779.5
p.P137S
c.409C>T
1 paper
NM_002779.5
p.K108M
c.323A>T
1 paper
NM_002779.5
p.R104H
c.311G>A
1 paper
NM_002779.5
p.I102N
c.305T>A
1 paper
NM_002779.5
p.N146N
c.438C>T
1 paper
NM_002779.5
p.R150W
c.448C>T
1 paper
NM_002779.5
p.L151V
c.451C>G
1 paper
NM_002779.5
p.L151L
c.453G>C
1 paper
NM_002779.5
p.P93insFs
c.277dupC
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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."