Varaico: Literature-Extracted Genetic Variants

Gene:APOC2
Variant:p.A81V

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.A81V
c.242C>T
Surrounding Variants
1 paper
NM_000483.5
p.A80E
c.239C>A
2 papers
NM_000483.5
p.M82R
c.245T>G
1 paper
NM_000483.5
p.T84I
c.251C>T
1 paper
NM_000483.5
p.S78N
c.233G>A
1 paper
NM_000483.5
p.K77R
c.230A>G
7 papers
NM_000483.5
p.K77Q
c.229A>C
4 papers
NM_000483.5
p.Y85*
c.255C>A
3 papers
NM_000483.5
p.Y85*
c.255C>G
1 paper
NM_000483.5
p.T86T
c.258A>T
2 papers
NM_000483.5
p.Y75H
c.223T>C
1 paper
NM_000483.5
p.I88fs
c.262_263fs
1 paper
NM_000483.5
p.I88delFs
c.263_264delTT
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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."