Varaico: Literature-Extracted Genetic Variants

Gene:ARSL
Variant:p.T409M

ARSL

187 papers

RefSeq Summary

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartil...

Pfam Domains

Sulfataseaa 63–449UCSCSulfatase
Sulfatase_Caa 473–607UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

arylsulfatase L

HGNC Previous Symbols

CDPX; CDPX1; ARSE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000047.3
p.T409M
c.1226C>T
Surrounding Variants
2 papers
NM_000047.3
p.S410C
c.1228A>T
2 papers
NM_000047.3
p.T409_S410delins
c.1227_1228delinsAT
1 paper
NM_000047.3
p.L411R
c.1232T>G
2 papers
NM_000047.3
p.E407*
c.1219G>T
2 papers
NM_000047.3
p.R403*
c.1207C>T
1 paper
NM_000047.3
p.R420W
c.1258C>T
2 papers
NM_000047.3
p.R420Q
c.1259G>A
1 paper
NM_000047.3
p.L421R
c.1262T>G
8 papers
NM_000047.3
p.G424S
c.1270G>A
2 papers
NM_000047.3
p.R394C
c.1180C>T
3 papers
NM_000047.3
p.G391R
c.1171G>C
4 papers
NM_000047.3
p.G391R
c.1171G>A
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