Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.A535V

PXK

57 papers

RefSeq Summary

This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in...

Pfam Domains

PXaa 25–105UCSCPX domain
PXaa 42–122UCSCPX domain
WH2aa 545–574UCSCWH2 motif

Gene Aliases

HGNC Name

PX domain containing serine/threonine kinase like

HGNC Alias Symbols

FLJ20335; Slob

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017771.5
p.A535V
c.1604C>T
Surrounding Variants
1 paper
NM_017771.5
p.Q542*
c.1624C>T
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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."