Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.V41L

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.V41L
c.121G>C
Surrounding Variants
1 paper
NM_000039.3
p.V41L
c.121G>T
1 paper
NM_000039.3
p.T40delFs
c.118delT
3 papers
NM_000039.3
p.V43L
c.127G>T
3 papers
NM_000039.3
p.V43L
c.127G>C
3 papers
NM_000039.3
p.V43M
c.127G>A
1 paper
NM_000039.3
p.A39T
c.115G>A
1 paper
NM_000039.3
p.L38P
c.113T>C
1 paper
NM_000039.3
p.V43V
c.129G>C
1 paper
NM_000039.3
p.D44Y
c.130G>T
1 paper
NM_000039.3
p.D44delFs
c.131delT
1 paper
NM_000039.3
p.D37N
c.109G>A
1 paper
NM_000039.3
p.D37fs
c.109_110fs
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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."