Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.W331*

ARSD

133 papers

RefSeq Summary

The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glyco...

Pfam Domains

Sulfataseaa 41–427UCSCSulfatase
Sulfatase_Caa 451–585UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

arylsulfatase D

HGNC Alias Symbol

ASD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
24 papers
NM_001669.4
p.W331*
c.992G>A
Surrounding Variants
23 papers
NM_001669.4
p.W331*
c.993G>A
1 paper
NM_001669.4
p.D330_W331ins3
c.990_991ins9
1 paper
NM_001669.4
p.N325insFs
c.974dupA
3 papers
NM_001669.4
p.G323G
c.969T>G
1 paper
NM_001669.4
p.G334Splc
c.1000+17T>C
2 papers
NM_001669.4
p.Y322Y
c.966T>C
20 papers
NM_001669.4
p.G320D
c.959G>A
1 paper
NM_001669.4
p.G320C
c.958G>T
12 papers
NM_001669.4
p.Q318H
c.954G>T
12 papers
NM_001669.4
p.Q318H
c.954G>C
1 paper
NM_001669.4
p.G334Splc
c.1000+46T>A
1 paper
NM_001669.4
p.V308insFs
c.922_923ins13
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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."