Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.K131del1

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
13 papers
NM_000039.3
p.K131del1
c.391_392delCTT
Surrounding Variants
2 papers
NM_000039.3
p.W132R
c.394T>C
2 papers
NM_000039.3
p.W132R
c.394T>A
1 paper
NM_000039.3
p.W132L
c.395G>T
1 paper
NM_000039.3
p.W132S
c.395G>C
1 paper
NM_000039.3
p.W132C
c.396G>T
1 paper
NM_000039.3
p.W132C
c.396G>C
5 papers
NM_000039.3
p.K131M
c.392A>T
1 paper
NM_000039.3
p.K131delins
c.391_392delinsTG
2 papers
NM_000039.3
p.E134K
c.400G>A
1 paper
NM_000039.3
p.K130*
c.388A>T
1 paper
NM_000039.3
p.Q129H
c.387G>T
1 paper
NM_000039.3
p.Q129H
c.387G>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."