Varaico: Literature-Extracted Genetic Variants

Gene:APOBR
Variant:p.Q1044L

APOBR

115 papers

RefSeq Summary

Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vita...

Pfam Domains

ApolipoprotB_rcptaa 382–1097UCSCApolipoprotein B receptor

Gene Aliases

HGNC Name

apolipoprotein B receptor

HGNC Alias Symbols

APOB48R; APOB100R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018690.4
p.Q1044L
c.3131A>T
Surrounding Variants
1 paper
NM_018690.4
p.Q1044insFs
c.3131_3132insC
1 paper
NM_018690.4
p.Q1044fs
c.3130_3131fs
1 paper
NM_018690.4
p.E1051*
c.3151G>T
1 paper
NM_018690.4
p.P1035_E1036del2
c.3103_3107del6
1 paper
NM_018690.4
p.P1057H
c.3170C>A
1 paper
NM_018690.4
p.P1029R
c.3086C>G
1 paper
NM_018690.4
p.P1029A
c.3085C>G
1 paper
NM_018690.4
p.V1065M
c.3193G>A
1 paper
NM_018690.4
p.A1067T
c.3199G>A
1 paper
NM_018690.4
p.R1001C
c.3001C>T
1 paper
NM_018690.4
p.V997L
c.2989G>C
1 paper
NM_018690.4
p.R1093R
c.3279G>T
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