Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.R19*

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
95 papers
NM_000040.3
p.R19*
c.55C>T
Surrounding Variants
1 paper
NM_000040.3
p.R19G
c.55C>G
44 papers
NM_000040.3
p.R19Splc
c.55+1G>A
1 paper
NM_000040.3
p.R19Splc
c.55+1G>C
1 paper
NM_000040.3
p.R19L
c.56G>T
1 paper
NM_000040.3
p.A18T
c.52G>A
1 paper
NM_000040.3
p.A18P
c.52G>C
1 paper
NM_000040.3
p.S17delins
c.50_51delinsGA
1 paper
NM_000040.3
p.L15M
c.43C>A
3 papers
NM_000040.3
p.L14V
c.40C>G
4 papers
NM_000040.3
p.A10T
c.28G>A
1 paper
NM_000040.3
p.V8L
c.22G>C
1 paper
NM_000040.3
p.L7F
c.19C>T
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