Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.R288Splc

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.R288Splc
c.864-151T>C
Surrounding Variants
1 paper
NM_001669.4
p.R288Splc
c.864-164C>T
1 paper
NM_001669.4
p.R288Splc
c.864-167A>G
1 paper
NM_001669.4
p.R288Splc
c.864-180A>G
1 paper
NM_001669.4
p.R288Splc
c.864-122A>C
1 paper
NM_001669.4
p.R288Splc
c.864-70G>A
1 paper
NM_001669.4
p.R288Splc
c.864-47G>A
1 paper
NM_001669.4
p.R288Splc
c.864-38A>G
1 paper
NM_001669.4
p.R288Splc
c.864-36A>G
1 paper
NM_001669.4
p.R288Splc
c.864-19G>A
1 paper
NM_001669.4
p.R288Splc
c.864-16A>G
1 paper
NM_001669.4
p.L300insFs
c.898_899ins13
1 paper
NM_001669.4
p.V308insFs
c.922_923ins13
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