Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.P777S

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.P777S
c.2329C>T
Surrounding Variants
1 paper
NM_002779.5
p.S785G
c.2353A>G
1 paper
NM_002779.5
p.F786L
c.2358C>G
1 paper
NM_002779.5
p.G788G
c.2364G>A
1 paper
NM_002779.5
p.K775N
c.2325G>T
1 paper
NM_002779.5
p.K775N
c.2325G>C
1 paper
NM_002779.5
p.K775R
c.2324A>G
1 paper
NM_002779.5
p.C773S
c.2318G>C
1 paper
NM_002779.5
p.C773S
c.2317T>A
2 papers
NM_002779.5
p.P771A
c.2311C>G
1 paper
NM_002779.5
p.V767delFs
c.2299delC
1 paper
NM_002779.5
p.I735_S736Fs
c.2203_2207delinsTFs
1 paper
NM_002779.5
p.E810K
c.2428G>A
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