Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.A39D

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.A39D
c.116C>A
Surrounding Variants
1 paper
NM_000040.3
p.T40delFs
c.118delA
1 paper
NM_000040.3
p.A39T
c.115G>A
1 paper
NM_000040.3
p.H38H
c.114C>T
2 papers
NM_000040.3
p.K41T
c.122A>C
1 paper
NM_000040.3
p.K41R
c.122A>G
35 papers
NM_000040.3
p.A43T
c.127G>A
1 paper
NM_000040.3
p.A43S
c.127G>T
4 papers
NM_000040.3
p.G34G
c.102T>C
1 paper
NM_000040.3
p.G34fs
c.100_101fs
1 paper
NM_000040.3
p.G34C
c.100G>T
1 paper
NM_000040.3
p.D45delFs
c.133_134delGA
1 paper
NM_000040.3
p.Q33Q
c.99G>A
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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."