Varaico: Literature-Extracted Genetic Variants

Gene:SUMF2
Variant:p.F74L

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.F74L
c.220T>C
Surrounding Variants
1 paper
NM_015411.4
p.F74L
c.222C>A
1 paper
NM_015411.4
p.F74L
c.222C>G
2 papers
NM_015411.4
p.T70T
c.210C>A
1 paper
NM_015411.4
p.P53T
c.157C>A
1 paper
NM_015411.4
p.D51E
c.153C>A
1 paper
NM_015411.4
p.D51E
c.153C>G
1 paper
NM_015411.4
p.G36R
c.106G>C
1 paper
NM_015411.4
p.L20F
c.58C>T
1 paper
NM_015411.4
p.P10_L11insCC
c.28_32ins6
1 paper
NM_015411.4
p.H4insFs
c.10_11insCC
3 papers
NM_015411.4
p.M1R
c.2T>G
1 paper
NM_015411.4
p.M1L
c.1A>C
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