Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.I239I

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.I239I
c.717A>C
Surrounding Variants
1 paper
NM_144772.3
p.P244R
c.731C>G
13 papers
NM_144772.3
p.K245Q
c.733A>C
2 papers
NM_144772.3
p.A248fs
c.742_743fs
7 papers
NM_144772.3
p.A248delFs
c.743delC
1 paper
NM_144772.3
p.A248delFs
c.743_744delCA
5 papers
NM_144772.3
p.A248fs
c.742_743fs
9 papers
NM_144772.3
p.G253S
c.757G>A
1 paper
NM_144772.3
p.R254C
c.760C>T
9 papers
NM_144772.3
p.G222Splc
c.665-1G>A
10 papers
NM_144772.3
p.K270del1
c.808_809delAAG
1 paper
NM_144772.3
p.E268E
c.804G>A
9 papers
NM_144772.3
p.E268_K269delins
c.804_807delinsA
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