Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.Q196*

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.Q196*
c.586C>T
Surrounding Variants
1 paper
NM_000039.3
p.Q196L
c.587A>T
3 papers
NM_000039.3
p.Q196P
c.587A>C
3 papers
NM_000039.3
p.Q196delins
c.587_588delinsCC
4 papers
NM_000039.3
p.R197C
c.589C>T
2 papers
NM_000039.3
p.R197P
c.590G>C
2 papers
NM_000039.3
p.L194P
c.581T>C
3 papers
NM_000039.3
p.L198S
c.593T>C
1 paper
NM_000039.3
p.E193*
c.577G>T
4 papers
NM_000039.3
p.A199P
c.595G>C
1 paper
NM_000039.3
p.E193K
c.577G>A
1 paper
NM_000039.3
p.D192G
c.575A>G
1 paper
NM_000039.3
p.S191N
c.572G>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."