Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.M1R

SULF1

436 papers

RefSeq Summary

This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The en...

Pfam Domains

Sulfataseaa 43–374UCSCSulfatase
DUF3740aa 534–679UCSCSulfatase protein
DUF3740aa 680–743UCSCSulfatase protein

Gene Aliases

HGNC Name

sulfatase 1

HGNC Alias Symbols

KIAA1077; SULF-1; hSulf-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128205.2
p.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001128205.2
p.M1insFs
c.2_3insG
2 papers
NM_001128205.2
p.M1V
c.1A>G
1 paper
NM_001128205.2
p.C6delFs
c.16delT
2 papers
NM_001128205.2
p.C6S
c.16T>A
2 papers
NM_001128205.2
p.C6S
c.17G>C
1 paper
NM_001128205.2
p.L8insFs
c.23dupT
2 papers
NM_001128205.2
p.V12_G19insFs
c.34_56dup23
1 paper
NM_001128205.2
p.T15K
c.44C>A
1 paper
NM_001128205.2
p.E16D
c.48A>T
1 paper
NM_001128205.2
p.L17*
c.50T>A
1 paper
NM_001128205.2
p.R29insFs
c.85_86insG
2 papers
NM_001128205.2
p.R29W
c.85A>T
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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."