Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.V180E

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
4 papers
NM_000039.3
p.V180E
c.539T>A
Surrounding Variants
1 paper
NM_000039.3
p.V180L
c.538G>T
1 paper
NM_000039.3
p.V180L
c.538G>C
2 papers
NM_000039.3
p.H179delFs
c.535delG
5 papers
NM_000039.3
p.H179fs
c.535_536fs
3 papers
NM_000039.3
p.A178insFs
c.532_533dupGC
1 paper
NM_000039.3
p.A182insFs
c.544_545ins5
1 paper
NM_000039.3
p.L183R
c.548T>G
2 papers
NM_000039.3
p.L183P
c.548T>C
1 paper
NM_000039.3
p.A182_L183delFs
c.546_547delGC
2 papers
NM_000039.3
p.R177H
c.530G>A
1 paper
NM_000039.3
p.R177C
c.529C>T
2 papers
NM_000039.3
p.R184L
c.551G>T
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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."