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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL3ST3

GAL3ST3

57 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 3' position of galactose in N-ace...

Pfam Domains

Gal-3-0_sulfotraa 1–399UCSCGalactose-3-O-sulfotransferase

Gene Aliases

HGNC Name

galactose-3-O-sulfotransferase 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 55 variants

8 papers

chr11:66043141 G>T

NM_033036.3

p.A221D

c.662C>A

Gal-3-0_sulfotr

Exome: 1.7% (AC=24963, hom=231)Genome: 1.8% (AC=2667, hom=19)33 overlapping SVs

3 papers

chr11:66042940 C>T

NM_033036.3

p.R288H

c.863G>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

2 papers

chr11:66043457 C>T

NM_033036.3

p.V116M

c.346G>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=3, hom=0)Genome: n/a33 overlapping SVs

2 papers

chr11:66042999 G>A

NM_033036.3

p.N268N

c.804C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=91, hom=1)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

1 paper

chr11:66045367 G>C

NM_033036.3

p.R17G

c.49C>G

Gal-3-0_sulfotr

Exome: 0.0% (AC=141, hom=0)Genome: 0.0% (AC=21, hom=0)33 overlapping SVs

1 paper

chr11:66043669 T>C

NM_033036.3

p.K45R

c.134A>G

Gal-3-0_sulfotr

Exome: 0.0% (AC=1, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66043656 C>A

NM_033036.3

p.L49F

c.147G>T

Gal-3-0_sulfotr

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:66043656 C>G

NM_033036.3

p.L49F

c.147G>C

Gal-3-0_sulfotr

Exome: 0.0% (AC=4, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66043633 G>A

NM_033036.3

p.S57L

c.170C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=18, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:66043629 C>T

NM_033036.3

p.P58P

c.174G>A

Gal-3-0_sulfotr

Exome: 1.5% (AC=22173, hom=217)Genome: 1.3% (AC=1935, hom=23)33 overlapping SVs

1 paper

chr11:66043570 G>A

NM_033036.3

p.T78M

c.233C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=10, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:66043569 C>G

NM_033036.3

p.T78T

c.234G>C

Gal-3-0_sulfotr

Exome: 0.0% (AC=509, hom=4)Genome: 0.3% (AC=455, hom=1)34 overlapping SVs

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