Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.A208A

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
2 papers
NM_001669.4
p.A208A
c.624G>C
Surrounding Variants
1 paper
NM_001669.4
p.G210G
c.630G>T
1 paper
NM_001669.4
p.T204I
c.611C>T
1 paper
NM_001669.4
p.A216A
c.648C>T
1 paper
NM_001669.4
p.R197M
c.590G>T
13 papers
NM_001669.4
p.G221S
c.661G>A
1 paper
NM_001669.4
p.G221delFs
c.661delC
9 papers
NM_001669.4
p.F223I
c.667T>A
4 papers
NM_001669.4
p.S224C
c.671C>G
3 papers
NM_001669.4
p.P190P
c.570C>T
1 paper
NM_001669.4
p.A234G
c.701C>G
1 paper
NM_001669.4
p.V236M
c.706G>A
8 papers
NM_001669.4
p.A234_G237del0
c.701_709del9
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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."