Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.Q133_E134del2

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.Q133_E134del2
c.397_401del6
Surrounding Variants
1 paper
NM_000039.3
p.E134D
c.402G>T
1 paper
NM_000039.3
p.E134D
c.402G>C
1 paper
NM_000039.3
p.E134E
c.402G>A
1 paper
NM_000039.3
p.E135G
c.404A>G
1 paper
NM_000039.3
p.E135D
c.405G>T
3 papers
NM_000039.3
p.E135D
c.405G>C
1 paper
NM_000039.3
p.E134A
c.401A>C
2 papers
NM_000039.3
p.E134K
c.400G>A
1 paper
NM_000039.3
p.E137*
c.409G>T
1 paper
NM_000039.3
p.E137K
c.409G>A
1 paper
NM_000039.3
p.W132C
c.396G>T
1 paper
NM_000039.3
p.W132C
c.396G>C
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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."