Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.K164Q

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.K164Q
c.490A>C
Surrounding Variants
1 paper
NM_000039.3
p.K164N
c.492G>T
1 paper
NM_000039.3
p.K164N
c.492G>C
1 paper
NM_000039.3
p.E163G
c.488A>G
4 papers
NM_000039.3
p.L165R
c.494T>G
1 paper
NM_000039.3
p.Q162P
c.485A>C
1 paper
NM_000039.3
p.S166R
c.496A>C
2 papers
NM_000039.3
p.L161P
c.482T>C
1 paper
NM_000039.3
p.S166R
c.498C>G
2 papers
NM_000039.3
p.S166R
c.498C>A
1 paper
NM_000039.3
p.E160D
c.480G>C
2 papers
NM_000039.3
p.P167R
c.500C>G
2 papers
NM_000039.3
p.E160K
c.478G>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."