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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SULT2B1

SULT2B1

72 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 60–305UCSCSulfotransferase domain

Gene Aliases

HGNC Name

sulfotransferase family 2B member 1

HGNC Alias Symbol

HSST2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 93 variants

9 papers

chr19:48596914 G>A

NM_177973.2

p.R274Q

c.821G>A

Sulfotransfer_1

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

7 papers

chr19:48591631 C>T

NM_177973.2

p.P149L

c.446C>T

Sulfotransfer_1

exact variant not in gnomAD10 overlapping SVs

4 papers

chr19:48576021 T>C

NM_177973.2

p.L51S

c.152T>C

Exome: 0.7% (AC=10590, hom=55)Genome: 0.4% (AC=652, hom=3)11 overlapping SVs

4 papers

chr19:48587246 G>A

NM_177973.2

p.E78K

c.232G>A

Sulfotransfer_1

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

4 papers

chr19:48596896 G>A

NM_177973.2

p.R268H

c.803G>A

Sulfotransfer_1

Exome: 0.2% (AC=3346, hom=8)Genome: 0.2% (AC=261, hom=1)12 overlapping SVs

4 papers

chr19:48599142 C>T

NM_177973.2

p.C278C

c.834C>T

Sulfotransfer_1

Exome: 53.1% (AC=756932, hom=205628)Genome: 44.2% (AC=67008, hom=16252)13 overlapping SVs

4 papers

chr19:48599220 G>A

NM_177973.2

p.M304I

c.912G>A

Sulfotransfer_1

Exome: 0.1% (AC=922, hom=1)Genome: 0.1% (AC=99, hom=0)13 overlapping SVs

4 papers

chr19:48599220 G>C

NM_177973.2

p.M304I

c.912G>C

Sulfotransfer_1

exact variant not in gnomAD13 overlapping SVs

4 papers

chr19:48599220 G>T

NM_177973.2

p.M304I

c.912G>T

Sulfotransfer_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

4 papers

chr19:48599342 C>T

NM_177973.2

p.P345L

c.1034C>T

Exome: 2.1% (AC=29499, hom=374)Genome: 1.6% (AC=2481, hom=39)13 overlapping SVs

3 papers

chr19:48587291 C>T

NM_177973.2

p.R93C

c.277C>T

Sulfotransfer_1

Exome: 0.1% (AC=1082, hom=6)Genome: 0.1% (AC=83, hom=0)12 overlapping SVs

3 papers

chr19:48587312 C>T

NM_177973.2

p.R100W

c.298C>T

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 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."