Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.H168Q

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.H168Q
c.504C>G
Surrounding Variants
1 paper
NM_001669.4
p.H168Q
c.504C>A
1 paper
NM_001669.4
p.G169insFs
c.506dupG
12 papers
NM_001669.4
p.L166Q
c.497T>A
15 papers
NM_001669.4
p.G175D
c.524G>A
14 papers
NM_001669.4
p.M176K
c.527T>A
8 papers
NM_001669.4
p.S157F
c.470C>T
1 paper
NM_001669.4
p.N154insFs
c.460dupA
1 paper
NM_001669.4
p.G152C
c.454G>T
3 papers
NM_001669.4
p.P190P
c.570C>T
1 paper
NM_001669.4
p.G147Splc
c.440-15T>C
1 paper
NM_001669.4
p.G147Splc
c.440-17A>G
1 paper
NM_001669.4
p.R197M
c.590G>T
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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."