Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1

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
1–12 of 179 variants
31 papers
NM_182760.4
p.A279V
c.836C>T
30 papers
NM_182760.4
p.S155P
c.463T>C
22 papers
NM_182760.4
p.R349W
c.1045C>T
16 papers
NM_182760.4
p.G247R
c.739G>C
14 papers
NM_182760.4
p.R224W
c.670C>T
14 papers
NM_182760.4
p.R345C
c.1033C>T
13 papers
NM_182760.4
p.C336R
c.1006T>C
12 papers
NM_182760.4
p.A177P
c.529G>C
12 papers
NM_182760.4
p.N259I
c.776A>T
12 papers
NM_182760.4
p.G263V
c.788G>T
11 papers
NM_182760.4
p.P266L
c.797C>T
11 papers
NM_182760.4
p.R327*
c.979C>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."