Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.S32P

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
1 paper
NM_017771.5
p.S32P
c.94T>C
Surrounding Variants
1 paper
NM_017771.5
p.P19P
c.57G>A
1 paper
NM_017771.5
p.V18V
c.54G>A
1 paper
NM_017771.5
p.E5E
c.15G>A
1 paper
NM_017771.5
p.E5Q
c.13G>C
1 paper
NM_017771.5
p.T34_E35Splc
c.102+501T>G
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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."