Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.W96del1

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.W96del1
c.286_287delCCA
Surrounding Variants
1 paper
NM_000039.3
p.D97N
c.289G>A
1 paper
NM_000039.3
p.Q93_D97delins
c.278_289delinsCCGCCTCCT
1 paper
NM_000039.3
p.W96C
c.288G>T
1 paper
NM_000039.3
p.W96C
c.288G>C
1 paper
NM_000039.3
p.E94_D97del0
c.282_290del9
1 paper
NM_000039.3
p.W96insFs
c.286_287insA
1 paper
NM_000039.3
p.N98fs
c.292_293fs
11 papers
NM_000039.3
p.F95Y
c.284T>A
1 paper
NM_000039.3
p.L84_F95delins
c.250_284delinsGTCAC
1 paper
NM_000039.3
p.N98insFs
c.293dupA
1 paper
NM_000039.3
p.N98K
c.294C>A
1 paper
NM_000039.3
p.F95insFs
c.283_284insG
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