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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LGALS14

Variant:p.F52S

LGALS14

16 papers

RefSeq Summary

This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition dom...

Pfam Domains

Gal-bind_lectinaa 5–137UCSCGalactoside-binding lectin

Gene Aliases

HGNC Name

galectin 14

HGNC Alias Symbols

PPL13; CLC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:39707240 T>C

NM_020129.3

p.F52S

c.155T>C

Gal-bind_lectin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

Surrounding Variants

1 paper

chr19:39707249 G>A

NM_020129.3

p.R55Q

c.164G>A

Gal-bind_lectin

Exome: 0.0% (AC=13, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:39707186 C>G

NM_020129.3

p.P34R

c.101C>G

Gal-bind_lectin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:39707309 A>G

NM_020129.3

p.E75G

c.224A>G

Gal-bind_lectin

exact variant not in gnomAD11 overlapping SVs

2 papers

chr19:39707310 G>C

NM_020129.3

p.E75D

c.225G>C

Gal-bind_lectin

exact variant not in gnomAD11 overlapping SVs

2 papers

chr19:39707310 G>T

NM_020129.3

p.E75D

c.225G>T

Gal-bind_lectin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:39706672 G>A

NM_020129.3

p.V31I

c.91G>A

Gal-bind_lectin

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:39706619 C>A

NM_020129.3

p.S13Y

c.38C>A

Gal-bind_lectin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:39709261 T>C

NM_020129.3

p.M123T

c.368T>C

Gal-bind_lectin

Exome: 0.0% (AC=377, hom=1)Genome: 0.3% (AC=384, hom=2)11 overlapping SVs

1 paper

chr19:39709308 G>A

NM_020129.3

p.D139N

c.415G>A

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=29, hom=0)11 overlapping SVs

1 paper

chr19:39704529 A>G

NM_020129.3

p.M1V

c.1A>G

Exome: 0.0% (AC=154, hom=0)Genome: 0.0% (AC=12, hom=0)10 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."