Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.E130E

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.E130E
c.390A>G
Surrounding Variants
5 papers
NM_182760.4
p.E130D
c.390A>T
5 papers
NM_182760.4
p.E130D
c.390A>C
1 paper
NM_182760.4
p.E130G
c.389A>G
3 papers
NM_182760.4
p.V131G
c.392T>G
3 papers
NM_182760.4
p.S132_N133insG
c.394_398ins3
1 paper
NM_182760.4
p.T134P
c.400A>C
1 paper
NM_182760.4
p.M126L
c.376A>T
1 paper
NM_182760.4
p.M126L
c.376A>C
1 paper
NM_182760.4
p.Y125delFs
c.374delT
1 paper
NM_182760.4
p.Y125fs
c.373_374fs
1 paper
NM_182760.4
p.F136del1
c.406_408delAAA
1 paper
NM_182760.4
p.K138E
c.412A>G
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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."