Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.N259I

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
12 papers
NM_182760.4
p.N259I
c.776A>T
Surrounding Variants
2 papers
NM_182760.4
p.N259S
c.776A>G
3 papers
NM_182760.4
p.N259K
c.777C>G
3 papers
NM_182760.4
p.N259K
c.777C>A
1 paper
NM_182760.4
p.Q262*
c.784C>T
5 papers
NM_182760.4
p.Q262R
c.785A>G
12 papers
NM_182760.4
p.G263V
c.788G>T
1 paper
NM_182760.4
p.F265ins1
c.793_794insAGT
1 paper
NM_182760.4
p.F265ins1
c.793_794insATG
11 papers
NM_182760.4
p.P266L
c.797C>T
1 paper
NM_182760.4
p.L250fs
c.748_749fs
6 papers
NM_182760.4
p.L250delFs
c.748delG
1 paper
NM_182760.4
p.G271A
c.812G>C
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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."