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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LGALS8

Variant:p.F19Y

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

Selected Variant

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

Surrounding Variants

1 paper

chr1:236537507 T>TCTGCAACAGTCAC

NM_201544.4

p.F19insFs

c.56_57ins13

Gal-bind_lectin

exact variant not in gnomAD57 overlapping SVs

1 paper

chr1:236537509 G>T

NM_201544.4

p.V20F

c.58G>T

Gal-bind_lectin

Exome: 0.0% (AC=2, hom=0)Genome: n/a57 overlapping SVs

1 paper

chr1:236537523 T>C

NM_201544.4

p.P24P

c.72T>C

Gal-bind_lectin

Exome: 66.5% (AC=952203, hom=323827)Genome: 61.1% (AC=92876, hom=29292)57 overlapping SVs

1 paper

chr1:236537524 G>A

NM_201544.4

p.D25N

c.73G>A

Gal-bind_lectin

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)57 overlapping SVs

1 paper

chr1:236537549 T>G

NM_201544.4

p.I33S

c.98T>G

Gal-bind_lectin

exact variant not in gnomAD57 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

1 paper

chr1:236538884 A>T

NM_201544.4

p.Q47L

c.140A>T

Gal-bind_lectin

Exome: 0.0% (AC=0, hom=0)Genome: n/a57 overlapping SVs

1 paper

chr1:236538895 C>T

NM_201544.4

p.Q51*

c.151C>T

Gal-bind_lectin

exact variant not in gnomAD57 overlapping SVs

1 paper

chr1:236538909 C>T

NM_201544.4

p.S55S

c.165C>T

Gal-bind_lectin

Exome: 60.6% (AC=884701, hom=273263)Genome: 51.6% (AC=78332, hom=21956)57 overlapping SVs

1 paper

chr1:236538909 CA>C

NM_201544.4

p.M56delFs

c.166delA

Gal-bind_lectin

exact variant not in gnomAD57 overlapping SVs

1 paper

chr1:236538909 CA>TG

NM_201544.4

p.S55_M56delins

c.165_166delinsTG

Gal-bind_lectin

exact variant not in gnomAD57 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

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