Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.A468P

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
1 paper
NM_001387048.1
p.A468P
c.1402G>C
Surrounding Variants
1 paper
NM_001387048.1
p.D467delFs
c.1399delC
1 paper
NM_001387048.1
p.D467N
c.1399G>A
1 paper
NM_001387048.1
p.T469T
c.1407G>A
1 paper
NM_001387048.1
p.K476_C477insFs
c.1428_1429insC
2 papers
NM_001387048.1
p.P480L
c.1439C>T
2 papers
NM_001387048.1
p.P480R
c.1439C>G
1 paper
NM_001387048.1
p.L483R
c.1448T>G
4 papers
NM_001387048.1
p.L483P
c.1448T>C
1 paper
NM_001387048.1
p.G485D
c.1454G>A
1 paper
NM_001387048.1
p.N491K
c.1473C>G
1 paper
NM_001387048.1
p.N491K
c.1473C>A
1 paper
NM_001387048.1
p.S508G
c.1522A>G
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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."