Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.A188V

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.A188V
c.563C>T
Surrounding Variants
4 papers
NM_000039.3
p.A188S
c.562G>T
1 paper
NM_000039.3
p.L187_A188insFs
c.561_562ins7
4 papers
NM_000039.3
p.P189S
c.565C>T
1 paper
NM_000039.3
p.P189T
c.565C>A
1 paper
NM_000039.3
p.L187insFs
c.560_561ins7
1 paper
NM_000039.3
p.L187R
c.560T>G
2 papers
NM_000039.3
p.L187P
c.560T>C
6 papers
NM_000039.3
p.P189R
c.566C>G
1 paper
NM_000039.3
p.Y190C
c.569A>G
1 paper
NM_000039.3
p.R177_T185del0
c.529_555del27
1 paper
NM_000039.3
p.S191N
c.572G>A
2 papers
NM_000039.3
p.T185fs
c.553_554fs
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