Varaico: Literature-Extracted Genetic Variants

ARSH

78 papers

RefSeq Summary

Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and d...

Pfam Domains

Sulfataseaa 7–394UCSCSulfatase

Sulfatase_Caa 418–551UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

arylsulfatase family member H

HGNC Previous Names

arylsulfatase H; arylsulfatase family, member H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001011719.2

p.S89P

c.265T>C

Surrounding Variants

1 paper

NM_001011719.2

p.P93T

c.277C>A

1 paper

NM_001011719.2

p.P93P

c.279C>A

1 paper

NM_001011719.2

p.T97M

c.290C>T

1 paper

NM_001011719.2

p.A100S

c.298G>T

1 paper

NM_001011719.2

p.G107S

c.319G>A

1 paper

NM_001011719.2

p.G119G

c.357T>G

1 paper

NM_001011719.2

p.R125Q

c.374G>A

1 paper

NM_001011719.2

p.Y130C

c.389A>G

1 paper

NM_001011719.2

p.P132L

c.395C>T

1 paper

NM_001011719.2

p.H138R

c.413A>G

1 paper

NM_001011719.2

p.Y141Y

c.423C>T

2 papers

NM_001011719.2

p.G142W

c.424G>T