Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L114P

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
3 papers
NM_000039.3
p.L114P
c.341T>C
Surrounding Variants
1 paper
NM_000039.3
p.L114V
c.340C>G
3 papers
NM_000039.3
p.D113E
c.339T>G
3 papers
NM_000039.3
p.D113E
c.339T>A
1 paper
NM_000039.3
p.E115A
c.344A>C
1 paper
NM_000039.3
p.E115_E116insFs
c.345_346ins17
1 paper
NM_000039.3
p.D113N
c.337G>A
1 paper
NM_000039.3
p.E116fs
c.346_347fs
2 papers
NM_000039.3
p.E116V
c.347A>T
1 paper
NM_000039.3
p.K112T
c.335A>C
1 paper
NM_000039.3
p.S111R
c.331A>C
1 paper
NM_000039.3
p.E109E
c.327G>A
2 papers
NM_000039.3
p.A119D
c.356C>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."