Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.G50S

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
2 papers
NM_000039.3
p.G50S
c.148G>A
Surrounding Variants
5 papers
NM_000039.3
p.G50R
c.148G>C
1 paper
NM_000039.3
p.G50V
c.149G>T
1 paper
NM_000039.3
p.G50A
c.149G>C
1 paper
NM_000039.3
p.G50D
c.149G>A
1 paper
NM_000039.3
p.S49S
c.147C>T
1 paper
NM_000039.3
p.S49R
c.147C>G
1 paper
NM_000039.3
p.S49R
c.147C>A
1 paper
NM_000039.3
p.S49I
c.146G>T
2 papers
NM_000039.3
p.G50G
c.150C>T
1 paper
NM_000039.3
p.S49G
c.145A>G
1 paper
NM_000039.3
p.S49R
c.145A>C
1 paper
NM_000039.3
p.D48A
c.143A>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."