Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.D88H

APOC3

263 papers

RefSeq Summary

This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protei...

Pfam Domains

Apo-CIIIaa 22–90UCSCApolipoprotein CIII (Apo-CIII)

Gene Aliases

HGNC Name

apolipoprotein C3

HGNC Alias Symbols

Apo-CIII; ApoC-III; APOCIII; Apo-C3; ApoC-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000040.3
p.D88H
c.262G>C
Surrounding Variants
1 paper
NM_000040.3
p.D88E
c.264C>A
1 paper
NM_000040.3
p.D88E
c.264C>G
1 paper
NM_000040.3
p.E90delFs
c.270delG
1 paper
NM_000040.3
p.W85C
c.255G>C
1 paper
NM_000040.3
p.W85C
c.255G>T
1 paper
NM_000040.3
p.E83G
c.248A>G
1 paper
NM_000040.3
p.P93S
c.277C>T
1 paper
NM_000040.3
p.P93P
c.279A>C
2 papers
NM_000040.3
p.T94A
c.280A>G
1 paper
NM_000040.3
p.F81_S82insA
c.241_245ins3
2 papers
NM_000040.3
p.K80K
c.240G>A
1 paper
NM_000040.3
p.A96V
c.287C>T
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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."