Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.T290A

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.T290A
c.868A>G
Surrounding Variants
1 paper
NM_002779.5
p.T290M
c.869C>T
1 paper
NM_002779.5
p.T286A
c.856A>G
2 papers
NM_002779.5
p.R297C
c.889C>T
1 paper
NM_002779.5
p.R297G
c.889C>G
1 paper
NM_002779.5
p.E298D
c.894G>T
1 paper
NM_002779.5
p.G278A
c.833G>C
1 paper
NM_002779.5
p.G278E
c.833G>A
1 paper
NM_002779.5
p.E303D
c.909G>T
1 paper
NM_002779.5
p.E303D
c.909G>C
1 paper
NM_002779.5
p.L305R
c.914T>G
1 paper
NM_002779.5
p.A306_E309del0
c.917_925del9
1 paper
NM_002779.5
p.E309D
c.927G>C
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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."