Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.Q29Fs

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.Q29Fs
c.86delinsCCFs
Surrounding Variants
3 papers
NM_000039.3
p.Q29insFs
c.86_87insC
5 papers
NM_000039.3
p.Q29delFs
c.85delG
4 papers
NM_000039.3
p.Q29fs
c.85_86fs
1 paper
NM_000039.3
p.Q29fs
c.85_86fs
1 paper
NM_000039.3
p.Q29E
c.85C>G
1 paper
NM_000039.3
p.Q29K
c.85C>A
1 paper
NM_000039.3
p.S30G
c.88A>G
1 paper
NM_000039.3
p.S30N
c.89G>A
38 papers
NM_000039.3
p.P28L
c.83C>T
5 papers
NM_000039.3
p.P28R
c.83C>G
1 paper
NM_000039.3
p.P28S
c.82C>T
1 paper
NM_000039.3
p.P28T
c.82C>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."