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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL3ST2

Variant:p.M4L

GAL3ST2

53 papers

RefSeq Summary

This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing be...

Pfam Domains

Gal-3-0_sulfotraa 1–384UCSCGalactose-3-O-sulfotransferase

Gene Aliases

HGNC Name

galactose-3-O-sulfotransferase 2

HGNC Alias Symbol

GP3ST

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr2:241776965 A>T

NM_022134.3

p.M4L

c.10A>T

Gal-3-0_sulfotr

Exome: 29.5% (AC=411054, hom=62397)Genome: 35.2% (AC=53568, hom=10136)10 overlapping SVs

Surrounding Variants

2 papers

chr2:241776965 A>C

NM_022134.3

p.M4L

c.10A>C

Gal-3-0_sulfotr

exact variant not in gnomAD10 overlapping SVs

1 paper

chr2:241776969 TGG>T

NM_022134.3

p.L5_G6delFs

c.15_16delGG

Gal-3-0_sulfotr

exact variant not in gnomAD10 overlapping SVs

3 papers

chr2:241776972 G>A

NM_022134.3

p.G6D

c.17G>A

Gal-3-0_sulfotr

Exome: 0.1% (AC=1324, hom=24)Genome: 0.1% (AC=213, hom=8)10 overlapping SVs

2 papers

chr2:241776985 G>A

NM_022134.3

p.R10Splc

c.29+1G>A

Exome: 0.5% (AC=7533, hom=25)Genome: 0.4% (AC=561, hom=4)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."