Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.E172_P173Splc

NAXE

84 papers

RefSeq Summary

The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secreti...

Pfam Domains

YjeF_Naa 80–247UCSCYjeF-related protein N-terminus

Gene Aliases

HGNC Name

NAD(P)HX epimerase

HGNC Previous Symbol

APOA1BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_144772.3
p.E172_P173Splc
c.516+1G>A
Surrounding Variants
1 paper
NM_144772.3
p.P170L
c.509C>T
1 paper
NM_144772.3
p.E168insFs
c.502dupG
1 paper
NM_144772.3
p.P164T
c.490C>A
2 papers
NM_144772.3
p.C158S
c.473G>C
2 papers
NM_144772.3
p.C158S
c.472T>A
1 paper
NM_144772.3
p.Q157K
c.469C>A
1 paper
NM_144772.3
p.P149_L150delFs
c.445_448del4
1 paper
NM_144772.3
p.R145fs
c.433_434fs
1 paper
NM_144772.3
p.L133V
c.397C>G
1 paper
NM_144772.3
p.K132insFs
c.396dupA
1 paper
NM_144772.3
p.H130P
c.389A>C
1 paper
NM_144772.3
p.R129Q
c.386G>A
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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."