Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.E344G

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.E344G
c.1031A>G
Surrounding Variants
1 paper
NM_017771.5
p.D352N
c.1054G>A
1 paper
NM_017771.5
p.E307*
c.919G>T
1 paper
NM_017771.5
p.L296P
c.887T>C
1 paper
NM_017771.5
p.A369V
c.1106C>T
1 paper
NM_017771.5
p.S388_L391delFs
c.1162_1172del11
3 papers
NM_017771.5
p.L391S
c.1172T>C
1 paper
NM_017771.5
p.R270Q
c.809G>A
1 paper
NM_017771.5
p.Q258E
c.772C>G
1 paper
NM_017771.5
p.T213I
c.638C>T
1 paper
NM_017771.5
p.P202S
c.604C>T
1 paper
NM_017771.5
p.D186N
c.556G>A
1 paper
NM_017771.5
p.G184R
c.550G>C
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."