Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.L327L

SULF2

371 papers

RefSeq Summary

Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2...

Pfam Domains

Sulfataseaa 44–375UCSCSulfatase
DUF3740aa 528–664UCSCSulfatase protein

Gene Aliases

HGNC Name

sulfatase 2

HGNC Alias Symbols

KIAA1247; HSULF-2; SULF-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001387048.1
p.L327L
c.979C>T
Surrounding Variants
1 paper
NM_001387048.1
p.K329*
c.985A>T
1 paper
NM_001387048.1
p.K329insFs
c.985_986insAC
1 paper
NM_001387048.1
p.G330W
c.988G>T
1 paper
NM_001387048.1
p.G330R
c.988G>C
1 paper
NM_001387048.1
p.G330R
c.988G>A
1 paper
NM_001387048.1
p.K329delFs
c.986delT
1 paper
NM_001387048.1
p.H321N
c.961C>A
1 paper
NM_001387048.1
p.Y320C
c.959A>G
1 paper
NM_001387048.1
p.Y320S
c.959A>C
1 paper
NM_001387048.1
p.G319D
c.956G>A
1 paper
NM_001387048.1
p.A316D
c.947C>A
1 paper
NM_001387048.1
p.N309I
c.926A>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."