Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.K428E

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.K428E
c.1282A>G
Surrounding Variants
1 paper
NM_017771.5
p.P412L
c.1235C>T
1 paper
NM_017771.5
p.K410_I411Splc
c.1231-31C>T
1 paper
NM_017771.5
p.R456K
c.1367G>A
1 paper
NM_017771.5
p.A463S
c.1387G>T
3 papers
NM_017771.5
p.N474I
c.1421A>T
1 paper
NM_017771.5
p.A480V
c.1439C>T
2 papers
NM_017771.5
p.K481R
c.1442A>G
1 paper
NM_017771.5
p.S502L
c.1505C>T
1 paper
NM_017771.5
p.D398Y
c.1192G>T
3 papers
NM_017771.5
p.L391S
c.1172T>C
1 paper
NM_017771.5
p.S388_L391delFs
c.1162_1172del11
1 paper
NM_017771.5
p.A369V
c.1106C>T
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