Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.R177C

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.R177C
c.529C>T
Surrounding Variants
2 papers
NM_000039.3
p.R177H
c.530G>A
2 papers
NM_000039.3
p.A176T
c.526G>A
2 papers
NM_000039.3
p.R175H
c.524G>A
3 papers
NM_000039.3
p.A178insFs
c.532_533dupGC
5 papers
NM_000039.3
p.H179fs
c.535_536fs
2 papers
NM_000039.3
p.H179delFs
c.535delG
1 paper
NM_000039.3
p.V180L
c.538G>T
1 paper
NM_000039.3
p.V180L
c.538G>C
4 papers
NM_000039.3
p.V180E
c.539T>A
26 papers
NM_000039.3
p.R173P
c.518G>C
57 papers
NM_000039.3
p.R173C
c.517C>T
5 papers
NM_000039.3
p.R173S
c.517C>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."