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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LGALS9

LGALS9

53 papers

RefSeq Summary

The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpress...

Pfam Domains

Gal-bind_lectinaa 16–147UCSCGalactoside-binding lectin

Gal-bind_lectinaa 226–355UCSCGalactoside-binding lectin

Gene Aliases

HGNC Name

galectin 9

HGNC Alias Symbol

LGALS9A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 35 variants

3 papers

chr17:27643607 G>A

NM_009587.3

p.G176E

c.527G>A

Exome: 25.0% (AC=364803, hom=46131)Genome: 22.7% (AC=34449, hom=4091)6 overlapping SVs

2 papers

chr17:27648908 C>T

NM_009587.3

p.R332C

c.994C>T

Gal-bind_lectin

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr17:27631278 G>A

NM_009587.3

p.G5S

c.13G>A

Exome: 21.8% (AC=318600, hom=35453)Genome: 19.4% (AC=29467, hom=3029)3 overlapping SVs

1 paper

chr17:27631278 G>C

NM_009587.3

p.G5R

c.13G>C

exact variant not in gnomAD3 overlapping SVs

1 paper

chr17:27631288 C>A

NM_009587.3

p.A8D

c.23C>A

exact variant not in gnomAD3 overlapping SVs

1 paper

chr17:27638291 G>A

NM_009587.3

p.G23E

c.68G>A

Gal-bind_lectin

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:27638296 C>G

NM_009587.3

p.L25V

c.73C>G

Gal-bind_lectin

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:27638305 G>A

NM_009587.3

p.G28R

c.82G>A

Gal-bind_lectin

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=9, hom=0)6 overlapping SVs

1 paper

chr17:27638305 G>C

NM_009587.3

p.G28R

c.82G>C

Gal-bind_lectin

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:27638355 G>T

NM_009587.3

p.R44Splc

c.131+1G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:27640577 C>T

NM_009587.3

p.A46V

c.137C>T

Gal-bind_lectin

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:27640601 G>T

NM_009587.3

p.S54I

c.161G>T

Gal-bind_lectin

exact variant not in gnomAD6 overlapping SVs

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