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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SULT1A1

SULT1A1

375 papers

RefSeq Summary

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and ...

Pfam Domains

Sulfotransfer_1aa 38–288UCSCSulfotransferase domain

Gene Aliases

HGNC Name

sulfotransferase family 1A member 1

HGNC Previous Symbols

STP; STP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 182 variants

197 papers

chr16:28606193 C>T

NM_001055.4

p.R213H

c.638G>A

Sulfotransfer_1

Exome: 30.7% (AC=410105, hom=85991)Genome: 29.5% (AC=43911, hom=7555)11 overlapping SVs

10 papers

chr16:28606164 C>T

NM_001055.4

p.V223M

c.667G>A

Sulfotransfer_1

Exome: 99.2% (AC=1448130, hom=719019)Genome: 92.3% (AC=139352, hom=64762)11 overlapping SVs

8 papers

chr16:28606207 C>G

NM_001055.4

p.L208L

c.624G>C

Sulfotransfer_1

exact variant not in gnomAD11 overlapping SVs

6 papers

chr16:28606112 T>C

NM_001055.4

p.Y240C

c.719A>G

Sulfotransfer_1

Exome: n/aGenome: 0.0% (AC=1, hom=0)11 overlapping SVs

6 papers

chr16:28606092 A>G

NM_001055.4

p.F247L

c.739T>C

Sulfotransfer_1

Exome: 0.2% (AC=2917, hom=30)Genome: 2.1% (AC=3076, hom=28)11 overlapping SVs

6 papers

chr16:28606090 G>C

NM_001055.4

p.F247L

c.741C>G

Sulfotransfer_1

exact variant not in gnomAD11 overlapping SVs

6 papers

chr16:28606090 G>T

NM_001055.4

p.F247L

c.741C>A

Sulfotransfer_1

Exome: 0.0% (AC=7, hom=0)Genome: n/a11 overlapping SVs

5 papers

chr16:28608842 T>C

NM_001055.4

p.Q5R

c.14A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

5 papers

chr16:28605852 C>T

NM_001055.4

p.G286D

c.857G>A

Sulfotransfer_1

exact variant not in gnomAD11 overlapping SVs

5 papers

chr16:28605847 T>A

NM_001055.4

p.S288C

c.862A>T

Sulfotransfer_1

Exome: n/aGenome: 0.0% (AC=2, hom=0)11 overlapping SVs

4 papers

chr16:28608599 A>G

NM_001055.4

p.T51T

c.153T>C

Sulfotransfer_1

Exome: 37.5% (AC=541606, hom=102421)Genome: 34.0% (AC=51072, hom=8925)10 overlapping SVs

4 papers

chr16:28608590 T>C

NM_001055.4

p.V54V

c.162A>G

Sulfotransfer_1

Exome: 37.5% (AC=540525, hom=102532)Genome: 34.0% (AC=51061, hom=8935)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."