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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SULT2A1

SULT2A1

159 papers

RefSeq Summary

This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble ...

Pfam Domains

Sulfotransfer_1aa 34–278UCSCSulfotransferase domain

Gene Aliases

HGNC Name

sulfotransferase family 2A member 1

HGNC Previous Symbol

STD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 88 variants

11 papers

chr19:47871532 C>T

NM_003167.4

p.A261T

c.781G>A

Sulfotransfer_1

Exome: 0.4% (AC=5324, hom=296)Genome: 3.4% (AC=5209, hom=280)17 overlapping SVs

10 papers

chr19:47874723 T>C

NM_003167.4

p.K227E

c.679A>G

Sulfotransfer_1

Exome: 0.0% (AC=281, hom=0)Genome: 0.2% (AC=309, hom=1)18 overlapping SVs

8 papers

chr19:47883735 C>G

NM_003167.4

p.A63P

c.187G>C

Sulfotransfer_1

Exome: 0.2% (AC=2697, hom=81)Genome: 1.8% (AC=2749, hom=68)11 overlapping SVs

3 papers

chr19:47886257 T>C

NM_003167.4

p.M1V

c.1A>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

2 papers

chr19:47886169 A>G

NM_003167.4

p.F30S

c.89T>C

exact variant not in gnomAD11 overlapping SVs

2 papers

chr19:47886168 G>A

NM_003167.4

p.F30F

c.90C>T

Exome: 0.3% (AC=3996, hom=103)Genome: 2.0% (AC=3048, hom=85)11 overlapping SVs

2 papers

chr19:47883654 T>A

NM_003167.4

p.T90S

c.268A>T

Sulfotransfer_1

exact variant not in gnomAD11 overlapping SVs

2 papers

chr19:47879046 T>A

NM_003167.4

p.E186V

c.557A>T

Sulfotransfer_1

exact variant not in gnomAD13 overlapping SVs

2 papers

chr19:47874818 A>G

NM_003167.4

p.I195T

c.584T>C

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr19:47874735 T>C

NM_003167.4

p.M223V

c.667A>G

Sulfotransfer_1

exact variant not in gnomAD18 overlapping SVs

1 paper

chr19:47886252 C>T

NM_003167.4

p.S2S

c.6G>A

Exome: 0.0% (AC=613, hom=4)Genome: 0.4% (AC=577, hom=6)11 overlapping SVs

1 paper

chr19:47886239 A>C

NM_003167.4

p.W7G

c.19T>G

Exome: 0.0% (AC=5, hom=0)Genome: n/a11 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."