Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.S248I

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.S248I
c.743G>T
Surrounding Variants
1 paper
NM_000039.3
p.L246L
c.736C>T
1 paper
NM_000039.3
p.V251D
c.752T>A
1 paper
NM_000039.3
p.P244insFs
c.732dupC
1 paper
NM_000039.3
p.V251V
c.753C>A
2 papers
NM_000039.3
p.S252S
c.756C>T
1 paper
NM_000039.3
p.L254R
c.761T>G
1 paper
NM_000039.3
p.L254Q
c.761T>A
1 paper
NM_000039.3
p.L242V
c.724C>G
1 paper
NM_000039.3
p.L242M
c.724C>A
1 paper
NM_000039.3
p.G241G
c.723C>A
1 paper
NM_000039.3
p.A256T
c.766G>A
3 papers
NM_000039.3
p.Q240*
c.718C>T
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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."