Varaico: Literature-Extracted Genetic Variants

Gene:SUMF2
Variant:p.P132_G133insFs

SUMF2

28 papers

RefSeq Summary

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with F...

Pfam Domains

FGE-sulfataseaa 26–292UCSCSulfatase-modifying factor enzyme 1-like domain

Gene Aliases

HGNC Name

sulfatase modifying factor 2

HGNC Alias Symbol

DKFZp566I1024

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015411.4
p.P132_G133insFs
c.396_397insC
Surrounding Variants
1 paper
NM_015411.4
p.P132_G133insG
c.394_398ins3
1 paper
NM_015411.4
p.R162*
c.484C>T
1 paper
NM_015411.4
p.W118G
c.352T>G
1 paper
NM_015411.4
p.A108S
c.322G>T
1 paper
NM_015411.4
p.T193S
c.578C>G
1 paper
NM_015411.4
p.A206T
c.616G>A
4 papers
NM_015411.4
p.A221delFs
c.661delG
1 paper
NM_015411.4
p.G226Splc
c.676+5G>T
1 paper
NM_015411.4
p.Q247R
c.740A>G
2 papers
NM_015411.4
p.R250delFs
c.748delC
2 papers
NM_015411.4
p.G263V
c.788G>T
1 paper
NM_015411.4
p.G276S
c.826G>A
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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."