Varaico: Literature-Extracted Genetic Variants

Gene:APOC2
Variant:p.W48ins1

APOC2

135 papers

RefSeq Summary

This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates...

Pfam Domains

Apo-CIIaa 24–100UCSCApolipoprotein C-II

Gene Aliases

HGNC Name

apolipoprotein C2

HGNC Previous Name

apolipoprotein C-II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000483.5
p.W48ins1
c.142_143insTTC
Surrounding Variants
5 papers
NM_000483.5
p.W48R
c.142T>A
5 papers
NM_000483.5
p.W48R
c.142T>C
1 paper
NM_000483.5
p.W48G
c.142T>G
1 paper
NM_000483.5
p.W48_E49ins4
c.142_146ins12
1 paper
NM_000483.5
p.W48L
c.143G>T
3 papers
NM_000483.5
p.S45fs
c.133_134fs
2 papers
NM_000483.5
p.A51V
c.152C>T
1 paper
NM_000483.5
p.K52_L58del0
c.156_173del18
5 papers
NM_000483.5
p.S45delFs
c.133_134delTC
1 paper
NM_000483.5
p.E42V
c.125A>T
2 papers
NM_000483.5
p.A54G
c.161C>G
13 papers
NM_000483.5
p.K41T
c.122A>C
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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."