Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L202P

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
11 papers
NM_000039.3
p.L202P
c.605T>C
Surrounding Variants
4 papers
NM_000039.3
p.L202R
c.605T>G
3 papers
NM_000039.3
p.L202H
c.605T>A
2 papers
NM_000039.3
p.R201H
c.602G>A
1 paper
NM_000039.3
p.R201C
c.601C>T
1 paper
NM_000039.3
p.R201G
c.601C>G
4 papers
NM_000039.3
p.R201S
c.601C>A
1 paper
NM_000039.3
p.A204V
c.611C>T
1 paper
NM_000039.3
p.L205V
c.613C>G
4 papers
NM_000039.3
p.A199P
c.595G>C
1 paper
NM_000039.3
p.L205_K206insFs
c.615_616insG
1 paper
NM_000039.3
p.L205fs
c.613_614fs
1 paper
NM_000039.3
p.K206fs
c.616_617fs
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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."