Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.S79P

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.S79P
c.235T>C
Surrounding Variants
1 paper
NM_000039.3
p.T78P
c.232A>C
1 paper
NM_000039.3
p.T80N
c.239C>A
1 paper
NM_000039.3
p.D75_T80insFs
c.224_240dup17
1 paper
NM_000039.3
p.V77M
c.229G>A
1 paper
NM_000039.3
p.F81S
c.242T>C
1 paper
NM_000039.3
p.S76T
c.227G>C
1 paper
NM_000039.3
p.F81F
c.243C>T
1 paper
NM_000039.3
p.K83R
c.248A>G
9 papers
NM_000039.3
p.W74R
c.220T>C
8 papers
NM_000039.3
p.W74R
c.220T>A
7 papers
NM_000039.3
p.L84R
c.251T>G
4 papers
NM_000039.3
p.L84P
c.251T>C
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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."