Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.V98A

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
1 paper
NM_182760.4
p.V98A
c.293T>C
Surrounding Variants
1 paper
NM_182760.4
p.V98E
c.293T>A
1 paper
NM_182760.4
p.G97V
c.290G>T
1 paper
NM_182760.4
p.P95A
c.283C>G
2 papers
NM_182760.4
p.G102V
c.305G>T
5 papers
NM_182760.4
p.V92delFs
c.276delG
1 paper
NM_182760.4
p.E113K
c.337G>A
1 paper
NM_182760.4
p.P115R
c.344C>G
1 paper
NM_182760.4
p.I121V
c.361A>G
1 paper
NM_182760.4
p.Y125fs
c.373_374fs
1 paper
NM_182760.4
p.Y125delFs
c.374delT
1 paper
NM_182760.4
p.M126L
c.376A>T
1 paper
NM_182760.4
p.M126L
c.376A>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."