Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.S155P

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
30 papers
NM_182760.4
p.S155P
c.463T>C
Surrounding Variants
2 papers
NM_182760.4
p.S155F
c.464C>T
5 papers
NM_182760.4
p.K151E
c.451A>G
1 paper
NM_182760.4
p.K167N
c.501G>T
1 paper
NM_182760.4
p.K167N
c.501G>C
2 papers
NM_182760.4
p.A173del1
c.517_518delTGC
3 papers
NM_182760.4
p.A173_V174Splc
c.519+4A>G
1 paper
NM_182760.4
p.G144S
c.430G>A
1 paper
NM_182760.4
p.K138E
c.412A>G
1 paper
NM_182760.4
p.F136del1
c.406_408delAAA
1 paper
NM_182760.4
p.T134P
c.400A>C
3 papers
NM_182760.4
p.S132_N133insG
c.394_398ins3
3 papers
NM_182760.4
p.V131G
c.392T>G
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."