Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.Y139F

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.Y139F
c.416A>T
Surrounding Variants
1 paper
NM_000039.3
p.Y139H
c.415T>C
1 paper
NM_000039.3
p.R140C
c.418C>T
1 paper
NM_000039.3
p.R140S
c.418C>A
2 papers
NM_000039.3
p.R140H
c.419G>A
1 paper
NM_000039.3
p.R140R
c.420C>G
1 paper
NM_000039.3
p.R140_Q141insFs
c.420_421insA
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.E135D
c.405G>T
3 papers
NM_000039.3
p.E135D
c.405G>C
1 paper
NM_000039.3
p.E135G
c.404A>G
1 paper
NM_000039.3
p.V143insFs
c.428dupT
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."