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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL3ST3

Variant:p.S57L

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

Selected Variant

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

Surrounding Variants

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

chr11:66043656 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

chr11:66043669 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

chr11:66043570 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

1 paper

chr11:66043544 C>A

NM_033036.3

p.A87S

c.259G>T

Gal-3-0_sulfotr

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:66043531 T>A

NM_033036.3

p.N91I

c.272A>T

Gal-3-0_sulfotr

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:66043499 C>A

NM_033036.3

p.E102*

c.304G>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

1 paper

chr11:66043477 C>T

NM_033036.3

p.R109H

c.326G>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=12, hom=0)33 overlapping SVs

1 paper

chr11:66043467 C>T

NM_033036.3

p.S112S

c.336G>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

1 paper

chr11:66043464 C>T

NM_033036.3

p.A113A

c.339G>A

Gal-3-0_sulfotr

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

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