Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.K206insFs

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.K206insFs
c.617_618insTG
Surrounding Variants
1 paper
NM_000039.3
p.K206fs
c.616_617fs
1 paper
NM_000039.3
p.K206Q
c.616A>C
1 paper
NM_000039.3
p.L205delFs
c.614_615delGA
1 paper
NM_000039.3
p.E207*
c.619G>T
2 papers
NM_000039.3
p.E207K
c.619G>A
1 paper
NM_000039.3
p.L205_K206insFs
c.615_616insG
1 paper
NM_000039.3
p.L205fs
c.613_614fs
1 paper
NM_000039.3
p.E207D
c.621G>T
1 paper
NM_000039.3
p.E207D
c.621G>C
1 paper
NM_000039.3
p.L205V
c.613C>G
1 paper
NM_000039.3
p.A204V
c.611C>T
1 paper
NM_000039.3
p.G209R
c.625G>C
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