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
1 paper
NM_182760.4
p.R201Splc
c.603-103T>C
Surrounding Variants
1 paper
NM_182760.4
p.R201Splc
c.603-2A>G
1 paper
NM_182760.4
p.P202L
c.605C>T
2 papers
NM_182760.4
p.W211*
c.632G>A
4 papers
NM_182760.4
p.A214T
c.640G>A
1 paper
NM_182760.4
p.A214V
c.641C>T
10 papers
NM_182760.4
p.C218Y
c.653G>A
1 paper
NM_182760.4
p.T219P
c.655A>C
1 paper
NM_182760.4
p.W220C
c.660G>T
1 paper
NM_182760.4
p.W220C
c.660G>C
7 papers
NM_182760.4
p.A221delFs
c.661delC
1 paper
NM_182760.4
p.G222R
c.664G>C
1 paper
NM_182760.4
p.G222R
c.664G>A
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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."