Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.K78E

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
4 papers
NM_000040.3
p.K78E
c.232A>G
Surrounding Variants
1 paper
NM_000040.3
p.V77I
c.229G>A
1 paper
NM_000040.3
p.D79N
c.235G>A
1 paper
NM_000040.3
p.D79G
c.236A>G
1 paper
NM_000040.3
p.S75R
c.225C>A
1 paper
NM_000040.3
p.S75R
c.225C>G
2 papers
NM_000040.3
p.K80K
c.240G>A
1 paper
NM_000040.3
p.S75R
c.223A>C
1 paper
NM_000040.3
p.F81_S82insA
c.241_245ins3
1 paper
NM_000040.3
p.Y73C
c.218A>G
1 paper
NM_000040.3
p.Y73D
c.217T>G
1 paper
NM_000040.3
p.E83G
c.248A>G
1 paper
NM_000040.3
p.D72Y
c.214G>T
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