Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.Q218insFs

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.Q218insFs
c.654dupG
Surrounding Variants
1 paper
NM_002779.5
p.D212E
c.636C>G
1 paper
NM_002779.5
p.D212E
c.636C>A
1 paper
NM_002779.5
p.D212H
c.634G>C
1 paper
NM_002779.5
p.L203Q
c.608T>A
1 paper
NM_002779.5
p.E201delFs
c.601delC
1 paper
NM_002779.5
p.E201K
c.601G>A
1 paper
NM_002779.5
p.G198fs
c.592_593fs
1 paper
NM_002779.5
p.P193S
c.577C>T
1 paper
NM_002779.5
p.Q182delFs
c.544delG
1 paper
NM_002779.5
p.G164G
c.492C>T
1 paper
NM_002779.5
p.S156delFs
c.468delT
1 paper
NM_002779.5
p.S154A
c.460T>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."