Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.N106N

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.N106N
c.318T>C
Surrounding Variants
1 paper
NM_017771.5
p.N111D
c.331A>G
1 paper
NM_017771.5
p.V102A
c.305T>C
1 paper
NM_017771.5
p.V102M
c.304G>A
1 paper
NM_017771.5
p.Q93*
c.277C>T
1 paper
NM_017771.5
p.N122D
c.364A>G
1 paper
NM_017771.5
p.I89V
c.265A>G
1 paper
NM_017771.5
p.L80F
c.240G>C
1 paper
NM_017771.5
p.L80F
c.240G>T
1 paper
NM_017771.5
p.L80W
c.239T>G
1 paper
NM_017771.5
p.P74R
c.221C>G
1 paper
NM_017771.5
p.R141*
c.421C>T
1 paper
NM_017771.5
p.R175L
c.524G>T
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