Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.A211A

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.A211A
c.633C>A
Surrounding Variants
1 paper
NM_000039.3
p.L213R
c.638T>G
1 paper
NM_000039.3
p.G209R
c.625G>C
1 paper
NM_000039.3
p.G209S
c.625G>A
1 paper
NM_000039.3
p.N208delFs
c.624delG
1 paper
NM_000039.3
p.A214D
c.641C>A
1 paper
NM_000039.3
p.A214A
c.642C>G
1 paper
NM_000039.3
p.E215Q
c.643G>C
1 paper
NM_000039.3
p.E207D
c.621G>T
1 paper
NM_000039.3
p.E207D
c.621G>C
1 paper
NM_000039.3
p.Y216D
c.646T>G
1 paper
NM_000039.3
p.E207*
c.619G>T
2 papers
NM_000039.3
p.E207K
c.619G>A
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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."