Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.E52*

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
2 papers
NM_000040.3
p.E52*
c.154G>T
Surrounding Variants
1 paper
NM_000040.3
p.Q51H
c.153G>C
1 paper
NM_000040.3
p.Q51P
c.152A>C
1 paper
NM_000040.3
p.E52D
c.156G>C
1 paper
NM_000040.3
p.E52D
c.156G>T
1 paper
NM_000040.3
p.V50A
c.149T>C
3 papers
NM_000040.3
p.V50M
c.148G>A
1 paper
NM_000040.3
p.Q54H
c.162G>C
1 paper
NM_000040.3
p.L47V
c.139C>G
1 paper
NM_000040.3
p.Q57insFs
c.171dupG
1 paper
NM_000040.3
p.A46V
c.137C>T
1 paper
NM_000040.3
p.Q58K
c.172C>A
4 papers
NM_000040.3
p.D45V
c.134A>T
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