Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.L28P

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.L28P
c.83T>C
Surrounding Variants
1 paper
NM_000040.3
p.L29I
c.85C>A
1 paper
NM_000040.3
p.S27_L28insFs
c.81_82insA
1 paper
NM_000040.3
p.L29Fs
c.86delinsCCFs
1 paper
NM_000040.3
p.S27P
c.79T>C
11 papers
NM_000040.3
p.D25V
c.74A>T
1 paper
NM_000040.3
p.F31F
c.93C>T
1 paper
NM_000040.3
p.D25N
c.73G>A
1 paper
NM_000040.3
p.D25Y
c.73G>T
1 paper
NM_000040.3
p.M32R
c.95T>G
1 paper
NM_000040.3
p.Q33E
c.97C>G
1 paper
NM_000040.3
p.Q33*
c.97C>T
2 papers
NM_000040.3
p.A23G
c.68C>G
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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."