Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.A282D

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
17 papers
NM_001669.4
p.A282D
c.845C>A
Surrounding Variants
1 paper
NM_001669.4
p.E281K
c.841G>A
1 paper
NM_001669.4
p.I286T
c.857T>C
1 paper
NM_001669.4
p.I286insFs
c.858dupT
1 paper
NM_001669.4
p.E272K
c.814G>A
1 paper
NM_001669.4
p.R288Splc
c.863+14G>A
2 papers
NM_001669.4
p.F248F
c.744C>T
2 papers
NM_001669.4
p.F241F
c.723C>T
1 paper
NM_001669.4
p.F241S
c.722T>C
16 papers
NM_001669.4
p.F240C
c.719T>G
2 papers
NM_001669.4
p.L239L
c.715C>T
1 paper
NM_001669.4
p.A234_L239delins
c.701_715delinsGCTTCT
15 papers
NM_001669.4
p.C238F
c.713G>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."