Varaico: Literature-Extracted Genetic Variants

Gene:SUMF2

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
1–12 of 31 variants
4 papers
NM_015411.4
p.A221delFs
c.661delG
3 papers
NM_015411.4
p.M1R
c.2T>G
2 papers
NM_015411.4
p.T70T
c.210C>A
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.M1L
c.1A>C
1 paper
NM_015411.4
p.M1V
c.1A>G
1 paper
NM_015411.4
p.M1L
c.1A>T
1 paper
NM_015411.4
p.H4insFs
c.10_11insCC
1 paper
NM_015411.4
p.P10_L11insCC
c.28_32ins6
1 paper
NM_015411.4
p.L20F
c.58C>T
1 paper
NM_015411.4
p.G36R
c.106G>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."