Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.G334Splc

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
1 paper
NM_001669.4
p.G334Splc
c.1000+108G>C
Surrounding Variants
1 paper
NM_001669.4
p.G334Splc
c.1000+121C>T
1 paper
NM_001669.4
p.G334Splc
c.1000+90A>G
1 paper
NM_001669.4
p.G334Splc
c.1000+149C>T
1 paper
NM_001669.4
p.G334Splc
c.1000+150A>G
1 paper
NM_001669.4
p.G334Splc
c.1000+155G>A
1 paper
NM_001669.4
p.G334Splc
c.1000+46T>A
1 paper
NM_001669.4
p.G334Splc
c.1000+17T>C
23 papers
NM_001669.4
p.W331*
c.993G>A
24 papers
NM_001669.4
p.W331*
c.992G>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
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