Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.R4Q

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.R4Q
c.11G>A
Surrounding Variants
2 papers
NM_000040.3
p.R4R
c.10C>A
1 paper
NM_000040.3
p.R4W
c.10C>T
1 paper
NM_000040.3
p.V5I
c.13G>A
1 paper
NM_000040.3
p.Q2*
c.4C>T
1 paper
NM_000040.3
p.L7F
c.19C>T
1 paper
NM_000040.3
p.M1T
c.2T>C
2 papers
NM_000040.3
p.M1insFs
c.2_3insT
2 papers
NM_000040.3
p.M1V
c.1A>G
1 paper
NM_000040.3
p.M1L
c.1A>T
1 paper
NM_000040.3
p.V8L
c.22G>C
4 papers
NM_000040.3
p.A10T
c.28G>A
3 papers
NM_000040.3
p.L14V
c.40C>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."