Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.E222K

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.E222K
c.664G>A
Surrounding Variants
1 paper
NM_000039.3
p.E222*
c.664G>T
2 papers
NM_000039.3
p.H223Y
c.667C>T
1 paper
NM_000039.3
p.H223H
c.669T>C
1 paper
NM_000039.3
p.A220V
c.659C>T
1 paper
NM_000039.3
p.A220P
c.658G>C
1 paper
NM_000039.3
p.A220T
c.658G>A
1 paper
NM_000039.3
p.S225G
c.673A>G
1 paper
NM_000039.3
p.A218P
c.652G>C
1 paper
NM_000039.3
p.S225_T226Fs
c.675_676delinsGFs
2 papers
NM_000039.3
p.T226M
c.677C>T
1 paper
NM_000039.3
p.L227F
c.679C>T
1 paper
NM_000039.3
p.L227L
c.681C>G
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