Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.H20Q

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.H20Q
c.60T>A
Surrounding Variants
2 papers
NM_000039.3
p.H20H
c.60T>C
1 paper
NM_000039.3
p.H20insFs
c.58_59insG
1 paper
NM_000039.3
p.W22G
c.64T>G
2 papers
NM_000039.3
p.R19P
c.56G>C
3 papers
NM_000039.3
p.R19W
c.55C>T
1 paper
NM_000039.3
p.A18A
c.54T>C
1 paper
NM_000039.3
p.Q23*
c.67C>T
1 paper
NM_000039.3
p.A18G
c.53C>G
1 paper
NM_000039.3
p.A18P
c.52G>C
1 paper
NM_000039.3
p.A18T
c.52G>A
1 paper
NM_000039.3
p.Q24*
c.70C>T
1 paper
NM_000039.3
p.Q17R
c.50A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."