Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.C346W

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
4 papers
NM_182760.4
p.C346W
c.1038T>G
Surrounding Variants
3 papers
NM_182760.4
p.A347A
c.1041T>C
1 paper
NM_182760.4
p.R345L
c.1034G>T
9 papers
NM_182760.4
p.A348P
c.1042G>C
4 papers
NM_182760.4
p.R345H
c.1034G>A
14 papers
NM_182760.4
p.R345C
c.1033C>T
3 papers
NM_182760.4
p.A348V
c.1043C>T
22 papers
NM_182760.4
p.R349W
c.1045C>T
4 papers
NM_182760.4
p.R349G
c.1045C>G
1 paper
NM_182760.4
p.Y344H
c.1030T>C
1 paper
NM_182760.4
p.R349P
c.1046G>C
11 papers
NM_182760.4
p.R349Q
c.1046G>A
3 papers
NM_182760.4
p.R343S
c.1029G>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."