Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.D348N

APOL1

336 papers

RefSeq Summary

This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved i...

Pfam Domains

ApoLaa 88–387UCSCApolipoprotein L

Gene Aliases

HGNC Name

apolipoprotein L1

HGNC Previous Name

apolipoprotein L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003661.4
p.D348N
c.1042G>A
Surrounding Variants
1 paper
NM_003661.4
p.D348H
c.1042G>C
1 paper
NM_003661.4
p.L345V
c.1033C>G
1 paper
NM_003661.4
p.L352insFs
c.1054dupC
1 paper
NM_003661.4
p.Y351F
c.1052A>T
1 paper
NM_003661.4
p.L352F
c.1054C>T
1 paper
NM_003661.4
p.F344delFs
c.1032delT
1 paper
NM_003661.4
p.F343Y
c.1028T>A
1 paper
NM_003661.4
p.F343S
c.1028T>C
1 paper
NM_003661.4
p.F343C
c.1028T>G
1 paper
NM_003661.4
p.F343I
c.1027T>A
1 paper
NM_003661.4
p.F343L
c.1027T>C
1 paper
NM_003661.4
p.F343V
c.1027T>G
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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."