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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LGALS3

LGALS3

178 papers

RefSeq Summary

This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-...

Pfam Domains

Gal-bind_lectinaa 117–247UCSCGalactoside-binding lectin

Gene Aliases

HGNC Name

galectin 3

HGNC Alias Symbols

MAC-2; GALIG

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 75 variants

24 papers

chr14:55138217 C>A

NM_002306.4

p.P64H

c.191C>A

Exome: 39.3% (AC=573600, hom=115508)Genome: 35.7% (AC=54298, hom=10258)14 overlapping SVs

13 papers

chr14:55138318 A>C

NM_002306.4

p.T98P

c.292A>C

Exome: 44.5% (AC=648954, hom=148893)Genome: 55.6% (AC=84622, hom=26584)14 overlapping SVs

9 papers

chr14:55142710 A>C

NM_002306.4

p.R186S

c.558A>C

Gal-bind_lectin

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

9 papers

chr14:55142710 A>T

NM_002306.4

p.R186S

c.558A>T

Gal-bind_lectin

exact variant not in gnomAD14 overlapping SVs

6 papers

chr14:55145121 A>C

NM_002306.4

p.Q201H

c.603A>C

Gal-bind_lectin

exact variant not in gnomAD14 overlapping SVs

6 papers

chr14:55145121 A>T

NM_002306.4

p.Q201H

c.603A>T

Gal-bind_lectin

Exome: 7.6% (AC=110683, hom=4538)Genome: 5.7% (AC=8701, hom=310)14 overlapping SVs

4 papers

chr14:55142700 G>A

NM_002306.4

p.R183K

c.548G>A

Gal-bind_lectin

Exome: 0.3% (AC=3973, hom=162)Genome: 2.6% (AC=3926, hom=164)14 overlapping SVs

4 papers

chr14:55145237 T>C

NM_002306.4

p.I240T

c.719T>C

Gal-bind_lectin

Exome: 0.0% (AC=254, hom=0)Genome: 0.1% (AC=130, hom=0)14 overlapping SVs

3 papers

chr14:55138163 C>G

NM_002306.4

p.P46R

c.137C>G

Exome: 0.0% (AC=348, hom=0)Genome: 0.0% (AC=19, hom=0)14 overlapping SVs

2 papers

chr14:55138055 C>T

NM_002306.4

p.A10V

c.29C>T

Exome: 0.1% (AC=1051, hom=0)Genome: 0.0% (AC=54, hom=0)14 overlapping SVs

2 papers

chr14:55138094 C>A

NM_002306.4

p.P23H

c.68C>A

exact variant not in gnomAD14 overlapping SVs

2 papers

chr14:55138135 C>G

NM_002306.4

p.P37A

c.109C>G

exact variant not in gnomAD14 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."