Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.L179P

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.L179P
c.536T>C
Surrounding Variants
1 paper
NM_144772.3
p.Y180_E181delFs
c.538_541del4
1 paper
NM_144772.3
p.Y180insFs
c.538dupT
1 paper
NM_144772.3
p.Y180fs
c.538_539fs
6 papers
NM_144772.3
p.G189S
c.565G>A
1 paper
NM_144772.3
p.V196V
c.588T>C
1 paper
NM_144772.3
p.P199L
c.596C>T
1 paper
NM_144772.3
p.L204V
c.610C>G
1 paper
NM_144772.3
p.L204P
c.611T>C
8 papers
NM_144772.3
p.I214V
c.640A>G
1 paper
NM_144772.3
p.I214N
c.641T>A
1 paper
NM_144772.3
p.I214T
c.641T>C
9 papers
NM_144772.3
p.I214S
c.641T>G
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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."