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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UST

UST

19 papers

RefSeq Summary

Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [...

Pfam Domains

Sulfotransfer_2aa 101–351UCSCSulfotransferase family

Gene Aliases

HGNC Name

uronyl 2-sulfotransferase

HGNC Alias Symbol

2OST

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr6:148747440 A>C

NM_005715.3

p.K4Q

c.10A>C

Exome: 0.1% (AC=1571, hom=1)Genome: 0.1% (AC=171, hom=0)51 overlapping SVs

1 paper

chr6:148747509 G>A

NM_005715.3

p.G27S

c.79G>A

Exome: 0.6% (AC=8068, hom=24)Genome: 0.4% (AC=630, hom=2)51 overlapping SVs

1 paper

chr6:148747642 C>T

NM_005715.3

p.P71L

c.212C>T

Exome: 1.2% (AC=16743, hom=122)Genome: 0.8% (AC=1228, hom=13)51 overlapping SVs

1 paper

chr6:148953891 T>G

NM_005715.3

p.I156R

c.467T>G

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

1 paper

chr6:148953920 A>G

NM_005715.3

p.T166A

c.496A>G

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

1 paper

chr6:148964471 T>G

NM_005715.3

p.S197A

c.589T>G

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

1 paper

chr6:148964556 G>A

NM_005715.3

p.R225H

c.674G>A

Sulfotransfer_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a52 overlapping SVs

1 paper

chr6:149019180 C>T

NM_005715.3

p.S241S

c.723C>T

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

1 paper

chr6:149021373 A>G

NM_005715.3

p.N277D

c.829A>G

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

1 paper

chr6:149021385 G>A

NM_005715.3

p.V281M

c.841G>A

Sulfotransfer_2

Exome: 0.0% (AC=12, hom=0)Genome: n/a52 overlapping SVs

1 paper

chr6:149073841 A>T

NM_005715.3

p.K316*

c.946A>T

Sulfotransfer_2

exact variant not in gnomAD52 overlapping SVs

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