Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.E716K

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.E716K
c.2146G>A
Surrounding Variants
1 paper
NM_002779.5
p.E714K
c.2140G>A
1 paper
NM_002779.5
p.R719H
c.2156G>A
1 paper
NM_002779.5
p.I712_D713ins1
c.2136_2137insCAC
1 paper
NM_002779.5
p.V731I
c.2191G>A
1 paper
NM_002779.5
p.I735_S736Fs
c.2203_2207delinsTFs
1 paper
NM_002779.5
p.V767delFs
c.2299delC
2 papers
NM_002779.5
p.P771A
c.2311C>G
1 paper
NM_002779.5
p.C773S
c.2317T>A
1 paper
NM_002779.5
p.C773S
c.2318G>C
1 paper
NM_002779.5
p.K775R
c.2324A>G
1 paper
NM_002779.5
p.K775N
c.2325G>T
1 paper
NM_002779.5
p.K775N
c.2325G>C
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