Varaico: Literature-Extracted Genetic Variants

Gene:ARSF
Variant:p.R60H

ARSF

261 papers

RefSeq Summary

This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on...

Pfam Domains

Sulfataseaa 30–416UCSCSulfatase
Sulfatase_Caa 440–574UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

arylsulfatase F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001201539.2
p.R60H
c.179G>A
Surrounding Variants
1 paper
NM_001201539.2
p.D59H
c.175G>C
1 paper
NM_001201539.2
p.E64K
c.190G>A
2 papers
NM_001201539.2
p.T55M
c.164C>T
1 paper
NM_001201539.2
p.G65_V66insFs
c.195_196insA
1 paper
NM_001201539.2
p.I72I
c.216C>T
1 paper
NM_001201539.2
p.L77F
c.229C>T
1 paper
NM_001201539.2
p.R82R
c.246G>C
1 paper
NM_001201539.2
p.A84A
c.252G>A
1 paper
NM_001201539.2
p.T87T
c.261G>A
1 paper
NM_001201539.2
p.G88A
c.263G>C
1 paper
NM_001201539.2
p.Y90H
c.268T>C
1 paper
NM_001201539.2
p.I92delFs
c.276delC
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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."