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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LGALS8

LGALS8

76 papers

RefSeq Summary

This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many ess...

Pfam Domains

Gal-bind_lectinaa 18–151UCSCGalactoside-binding lectin

Gal-bind_lectinaa 186–316UCSCGalactoside-binding lectin

Gene Aliases

HGNC Name

galectin 8

HGNC Alias Symbol

PCTA-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 57 variants

15 papers

chr1:236537507 T>A

NM_201544.4

p.F19Y

c.56T>A

Gal-bind_lectin

Exome: 66.4% (AC=937110, hom=318179)Genome: 61.1% (AC=92872, hom=29286)57 overlapping SVs

11 papers

chr1:236537557 C>T

NM_201544.4

p.R36C

c.106C>T

Gal-bind_lectin

Exome: 66.5% (AC=954461, hom=323748)Genome: 61.2% (AC=92946, hom=29325)57 overlapping SVs

11 papers

chr1:236538910 A>G

NM_201544.4

p.M56V

c.166A>G

Gal-bind_lectin

Exome: 71.0% (AC=1036725, hom=370972)Genome: 70.0% (AC=106264, hom=37413)57 overlapping SVs

7 papers

chr1:236543562 G>C

NM_201544.4

p.R184S

c.552G>C

Exome: 74.2% (AC=1082870, hom=404153)Genome: 73.8% (AC=112055, hom=41554)57 overlapping SVs

7 papers

chr1:236543562 G>T

NM_201544.4

p.R184S

c.552G>T

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=0, hom=0)57 overlapping SVs

3 papers

chr1:236544866 A>G

NM_201544.4

p.E252G

c.755A>G

Gal-bind_lectin

Exome: 0.0% (AC=5, hom=0)Genome: n/a56 overlapping SVs

2 papers

chr1:236538950 G>A

NM_201544.4

p.R69H

c.206G>A

Gal-bind_lectin

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=4, hom=0)57 overlapping SVs

2 papers

chr1:236539070 T>G

NM_201544.4

p.V109G

c.326T>G

Gal-bind_lectin

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=8, hom=0)57 overlapping SVs

2 papers

chr1:236543590 C>A

NM_201544.4

p.P194T

c.580C>A

Gal-bind_lectin

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=0, hom=0)57 overlapping SVs

2 papers

chr1:236543623 G>T

NM_201544.4

p.G205*

c.613G>T

Gal-bind_lectin

exact variant not in gnomAD57 overlapping SVs

1 paper

chr1:236526074 A>G

NM_201544.4

p.M2V

c.4A>G

exact variant not in gnomAD58 overlapping SVs

1 paper

chr1:236526092 C>CT

NM_201544.4

p.L8insFs

c.23dupT

exact variant not in gnomAD58 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."