Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.L613P

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.L613P
c.1838T>C
Surrounding Variants
1 paper
NM_002779.5
p.K614R
c.1841A>G
2 papers
NM_002779.5
p.E615fs
c.1843_1844fs
1 paper
NM_002779.5
p.V611E
c.1832T>A
1 paper
NM_002779.5
p.E615G
c.1844A>G
2 papers
NM_002779.5
p.E615delFs
c.1843delC
1 paper
NM_002779.5
p.E621K
c.1861G>A
1 paper
NM_002779.5
p.E626K
c.1876G>A
1 paper
NM_002779.5
p.R635G
c.1903C>G
1 paper
NM_002779.5
p.A643P
c.1927G>C
1 paper
NM_002779.5
p.A643T
c.1927G>A
1 paper
NM_002779.5
p.A643D
c.1928C>A
1 paper
NM_002779.5
p.L644V
c.1930C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."