Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.R147R

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.R147R
c.441C>A
Surrounding Variants
1 paper
NM_000039.3
p.R147S
c.439C>A
1 paper
NM_000039.3
p.E149A
c.446A>C
1 paper
NM_000039.3
p.L150I
c.448C>A
1 paper
NM_000039.3
p.P145S
c.433C>T
1 paper
NM_000039.3
p.E144K
c.430G>A
1 paper
NM_000039.3
p.E144fs
c.430_431fs
1 paper
NM_000039.3
p.V143insFs
c.428dupT
3 papers
NM_000039.3
p.G153S
c.457G>A
2 papers
NM_000039.3
p.A154P
c.460G>C
1 paper
NM_000039.3
p.A154fs
c.460_461fs
8 papers
NM_000039.3
p.A154fs
c.460_461fs
1 paper
NM_000039.3
p.R140R
c.420C>G
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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."