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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCN8

LCN8

15 papers

RefSeq Summary

Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally...

Pfam Domains

Lipocalinaa 33–158UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

lipocalin 8

HGNC Previous Symbol

LCN5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 14 variants

1 paper

chr9:136757165 C>A

NM_178469.4

p.G10*

c.28G>T

Lipocalin

exact variant not in gnomAD6 overlapping SVs

1 paper

chr9:136757108 G>A

NM_178469.4

p.P29S

c.85C>T

Lipocalin

Exome: 0.0% (AC=61, hom=0)Genome: 0.1% (AC=80, hom=0)6 overlapping SVs

1 paper

chr9:136757102 G>A

NM_178469.4

p.R31W

c.91C>T

Lipocalin

Exome: 0.0% (AC=88, hom=0)Genome: 0.0% (AC=8, hom=0)6 overlapping SVs

1 paper

chr9:136756531 C>T

NM_178469.4

p.A73T

c.217G>A

Lipocalin

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr9:136756154 A>G

NM_178469.4

p.G76Splc

c.226+368T>C

Exome: 0.1% (AC=783, hom=8)Genome: 0.3% (AC=294, hom=5)8 overlapping SVs

1 paper

chr9:136755510 C>T

NM_178469.4

p.R78K

c.233G>A

Lipocalin

exact variant not in gnomAD8 overlapping SVs

1 paper

chr9:136755445 G>A

NM_178469.4

p.R100W

c.298C>T

Lipocalin

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr9:136755330 C>T

NM_178469.4

p.R112Q

c.335G>A

Lipocalin

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=7, hom=0)8 overlapping SVs

1 paper

chr9:136755289 G>A

NM_178469.4

p.R126W

c.376C>T

Lipocalin

Exome: 0.0% (AC=75, hom=0)Genome: 0.0% (AC=4, hom=0)8 overlapping SVs

1 paper

chr9:136755255 G>A

NM_178469.4

p.A137V

c.410C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr9:136755250 G>A

NM_178469.4

p.R139W

c.415C>T

Exome: 0.0% (AC=14, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr9:136755160 C>A

NM_178469.4

p.G141V

c.422G>T

Exome: 13.7% (AC=197480, hom=13794)Genome: 14.3% (AC=21772, hom=1632)7 overlapping SVs

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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."