Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.R224W

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
14 papers
NM_182760.4
p.R224W
c.670C>T
Surrounding Variants
2 papers
NM_182760.4
p.R224Q
c.671G>A
1 paper
NM_182760.4
p.G222R
c.664G>C
1 paper
NM_182760.4
p.G222R
c.664G>A
7 papers
NM_182760.4
p.A221delFs
c.661delC
1 paper
NM_182760.4
p.W220C
c.660G>T
1 paper
NM_182760.4
p.W220C
c.660G>C
1 paper
NM_182760.4
p.T219P
c.655A>C
10 papers
NM_182760.4
p.C218Y
c.653G>A
2 papers
NM_182760.4
p.E230G
c.689A>G
1 paper
NM_182760.4
p.E230_W231insFs
c.690_691insT
4 papers
NM_182760.4
p.W231insFs
c.691dupT
1 paper
NM_182760.4
p.W231fs
c.691_692fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."