Varaico: Literature-Extracted Genetic Variants

Gene:APOC1
Variant:p.S83P

APOC1

54 papers

RefSeq Summary

This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays ...

Pfam Domains

ApoC-Iaa 27–66UCSCApolipoprotein C-I (ApoC-1)
ApoC-Iaa 27–83UCSCApolipoprotein C-I (ApoC-1)

Gene Aliases

HGNC Name

apolipoprotein C1

HGNC Alias Symbols

Apo-CI; ApoC-I; apo-CIB; apoC-IB; APOC1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001645.5
p.S83P
c.247T>C
Surrounding Variants
2 papers
NM_001645.5
p.Q73H
c.219G>T
2 papers
NM_001645.5
p.T71S
c.211A>T
1 paper
NM_001645.5
p.E70G
c.209A>G
1 paper
NM_001645.5
p.F68I
c.202T>A
1 paper
NM_001645.5
p.F68L
c.202T>C
1 paper
NM_001645.5
p.F68V
c.202T>G
1 paper
NM_001645.5
p.R65Splc
c.195-1G>C
2 papers
NM_001645.5
p.R65Q
c.194G>A
1 paper
NM_001645.5
p.R65P
c.194G>C
1 paper
NM_001645.5
p.L60I
c.178C>A
1 paper
NM_001645.5
p.K56R
c.167A>G
1 paper
NM_001645.5
p.K56E
c.166A>G
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