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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUMF1

Variant:p.R327*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

11 papers

chr3:4376365 G>A

NM_182760.4

p.R327*

c.979C>T

FGE-sulfatase

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

Surrounding Variants

1 paper

chr3:4376364 C>T

NM_182760.4

p.R327Q

c.980G>A

FGE-sulfatase

Exome: 0.0% (AC=4, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr3:4376347 A>C

NM_182760.4

p.S333A

c.997T>G

FGE-sulfatase

exact variant not in gnomAD17 overlapping SVs

1 paper

chr3:4376347 A>T

NM_182760.4

p.S333T

c.997T>A

FGE-sulfatase

exact variant not in gnomAD17 overlapping SVs

13 papers

chr3:4376338 A>G

NM_182760.4

p.C336R

c.1006T>C

FGE-sulfatase

exact variant not in gnomAD17 overlapping SVs

3 papers

chr3:4376338 A>T

NM_182760.4

p.C336S

c.1006T>A

FGE-sulfatase

exact variant not in gnomAD17 overlapping SVs

3 papers

chr3:4376337 C>G

NM_182760.4

p.C336S

c.1007G>C

FGE-sulfatase

exact variant not in gnomAD17 overlapping SVs

1 paper

chr3:4376487 G>C

NM_182760.4

p.P318_K319Splc

c.955-98C>G

Exome: 0.0% (AC=136, hom=2)Genome: 0.0% (AC=19, hom=0)17 overlapping SVs

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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."