Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5

PLEKHG5

279 papers

RefSeq Summary

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple...

Pfam Domains

RhoGEFaa 340–526UCSCRhoGEF domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G5

HGNC Alias Symbols

KIAA0720; Syx; GEF720; Tech; ARHGEF45

Papers
RefSeq ID
Protein change
DNA change
1–12 of 402 variants
8 papers
NM_020631.6
p.T663M
c.1988C>T
7 papers
NM_020631.6
p.A147Splc
c.440-2A>G
7 papers
NM_020631.6
p.T238S
c.712A>T
7 papers
NM_020631.6
p.T238S
c.713C>G
7 papers
NM_020631.6
p.D310N
c.928G>A
7 papers
NM_020631.6
p.F647S
c.1940T>C
7 papers
NM_020631.6
p.G820R
c.2458G>C
5 papers
NM_020631.6
p.A414T
c.1240G>A
5 papers
NM_020631.6
p.E722_E723del1
c.2166_2168delTCC
5 papers
NM_020631.6
p.G810S
c.2428G>A
4 papers
NM_020631.6
p.P630H
c.1889C>A
4 papers
NM_020631.6
p.E723del1
c.2167_2168delTTC
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."