Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L238P

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
2 papers
NM_000039.3
p.L238P
c.713T>C
Surrounding Variants
1 paper
NM_000039.3
p.D237N
c.709G>A
3 papers
NM_000039.3
p.Q240*
c.718C>T
1 paper
NM_000039.3
p.E236K
c.706G>A
1 paper
NM_000039.3
p.L235F
c.703C>T
1 paper
NM_000039.3
p.G241G
c.723C>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.A234V
c.701C>T
1 paper
NM_000039.3
p.A234T
c.700G>A
1 paper
NM_000039.3
p.P233L
c.698C>T
1 paper
NM_000039.3
p.P233S
c.697C>T
1 paper
NM_000039.3
p.P244insFs
c.732dupC
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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."