Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.N67K

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.N67K
c.201C>G
Surrounding Variants
1 paper
NM_000039.3
p.N67K
c.201C>A
1 paper
NM_000039.3
p.L68Q
c.203T>A
1 paper
NM_000039.3
p.L68L
c.204A>C
1 paper
NM_000039.3
p.L70F
c.208C>T
1 paper
NM_000039.3
p.L70P
c.209T>C
1 paper
NM_000039.3
p.N67Splc
c.201-9A>G
1 paper
NM_000039.3
p.N73S
c.218A>G
1 paper
NM_000039.3
p.N73_W74insFs
c.219_220insT
9 papers
NM_000039.3
p.W74R
c.220T>C
8 papers
NM_000039.3
p.W74R
c.220T>A
1 paper
NM_000039.3
p.S76T
c.227G>C
1 paper
NM_000039.3
p.V77M
c.229G>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."