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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL3ST2

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

1–12 of 47 variants

6 papers

chr2:241801858 C>T

NM_022134.3

p.T66M

c.197C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

4 papers

chr2:241803427 A>G

NM_022134.3

p.Y153C

c.458A>G

Gal-3-0_sulfotr

Exome: 0.6% (AC=8438, hom=38)Genome: 0.5% (AC=729, hom=5)14 overlapping SVs

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

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

3 papers

chr2:241799078 ATCC>A

NM_022134.3

p.L19del1

c.55_56delCTC

Gal-3-0_sulfotr

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

3 papers

chr2:241804117 T>C

NM_022134.3

p.L383P

c.1148T>C

Gal-3-0_sulfotr

Exome: 1.0% (AC=12953, hom=66)Genome: 0.7% (AC=999, hom=7)15 overlapping SVs

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

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

2 papers

chr2:241803397 C>T

NM_022134.3

p.P143L

c.428C>T

Gal-3-0_sulfotr

Exome: 0.3% (AC=3714, hom=9)Genome: 0.2% (AC=277, hom=1)14 overlapping SVs

2 papers

chr2:241803822 C>A

NM_022134.3

p.H285N

c.853C>A

Gal-3-0_sulfotr

Exome: 0.2% (AC=3311, hom=2)Genome: 0.2% (AC=289, hom=1)15 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

1 paper

chr2:241799072 C>T

NM_022134.3

p.R13W

c.37C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

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