Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.E282D

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
1 paper
NM_144772.3
p.E282D
c.846G>T
Surrounding Variants
1 paper
NM_144772.3
p.E282D
c.846G>C
1 paper
NM_144772.3
p.R286C
c.856C>T
1 paper
NM_144772.3
p.P276fs
c.826_827fs
2 papers
NM_144772.3
p.P276delFs
c.827delC
2 papers
NM_144772.3
p.K269delins
c.807delinsA
1 paper
NM_144772.3
p.E268E
c.804G>A
9 papers
NM_144772.3
p.E268_K269delins
c.804_807delinsA
10 papers
NM_144772.3
p.K270del1
c.808_809delAAG
1 paper
NM_144772.3
p.R254C
c.760C>T
9 papers
NM_144772.3
p.G253S
c.757G>A
2 papers
NM_144772.3
p.A248fs
c.742_743fs
7 papers
NM_144772.3
p.A248delFs
c.743delC
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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."