Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.E259Q

APOA1

596 papers

RefSeq Summary

This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature pr...

Pfam Domains

Apolipoproteinaa 69–260UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A1

HGNC Previous Name

apolipoprotein A-I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000039.3
p.E259Q
c.775G>C
Surrounding Variants
1 paper
NM_000039.3
p.E258Q
c.772G>C
1 paper
NM_000039.3
p.Y260C
c.779A>G
1 paper
NM_000039.3
p.Y260*
c.780C>G
1 paper
NM_000039.3
p.Y260*
c.780C>A
1 paper
NM_000039.3
p.A256T
c.766G>A
3 papers
NM_000039.3
p.K262N
c.786G>T
3 papers
NM_000039.3
p.K262N
c.786G>C
1 paper
NM_000039.3
p.L254R
c.761T>G
1 paper
NM_000039.3
p.L254Q
c.761T>A
2 papers
NM_000039.3
p.S252S
c.756C>T
1 paper
NM_000039.3
p.T266fs
c.796_797fs
1 paper
NM_000039.3
p.N265_T266ins0
c.794_796dupACA
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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."