Varaico: Literature-Extracted Genetic Variants

Gene:ARSD
Variant:p.C238F

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
15 papers
NM_001669.4
p.C238F
c.713G>T
Surrounding Variants
4 papers
NM_001669.4
p.A234_G237del4
c.700_710del12
2 papers
NM_001669.4
p.L239L
c.715C>T
1 paper
NM_001669.4
p.A234_L239delins
c.701_715delinsGCTTCT
8 papers
NM_001669.4
p.A234_G237del0
c.701_709del9
16 papers
NM_001669.4
p.F240C
c.719T>G
1 paper
NM_001669.4
p.V236M
c.706G>A
1 paper
NM_001669.4
p.F241S
c.722T>C
2 papers
NM_001669.4
p.F241F
c.723C>T
1 paper
NM_001669.4
p.A234G
c.701C>G
2 papers
NM_001669.4
p.F248F
c.744C>T
4 papers
NM_001669.4
p.S224C
c.671C>G
9 papers
NM_001669.4
p.F223I
c.667T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."