Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.R201Splc

SUMF1

163 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-...

Pfam Domains

FGE-sulfataseaa 87–367UCSCSulfatase-modifying factor enzyme 1-like domain

Gene Aliases

HGNC Name

sulfatase modifying factor 1

HGNC Alias Symbols

FGE; UNQ3037

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182760.4
p.R201Splc
c.602+13C>T
Surrounding Variants
3 papers
NM_182760.4
p.R201Splc
c.602+1G>A
1 paper
NM_182760.4
p.L199L
c.595C>T
1 paper
NM_182760.4
p.R201Splc
c.602+50G>A
1 paper
NM_182760.4
p.L181*
c.542T>G
4 papers
NM_182760.4
p.W180L
c.539G>T
9 papers
NM_182760.4
p.W179S
c.536G>C
12 papers
NM_182760.4
p.A177P
c.529G>C
1 paper
NM_182760.4
p.A177T
c.529G>A
1 paper
NM_182760.4
p.A175del1
c.523_524delTGC
1 paper
NM_182760.4
p.R201Splc
c.603-103T>C
1 paper
NM_182760.4
p.R201Splc
c.603-2A>G
1 paper
NM_182760.4
p.P202L
c.605C>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."