Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.G347insFs

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.G347insFs
c.1040_1041insT
Surrounding Variants
1 paper
NM_001387048.1
p.R346delFs
c.1037delC
1 paper
NM_001387048.1
p.V350M
c.1048G>A
1 paper
NM_001387048.1
p.N349delFs
c.1047delG
1 paper
NM_001387048.1
p.V350E
c.1049T>A
1 paper
NM_001387048.1
p.L355Splc
c.1064+1G>A
1 paper
NM_001387048.1
p.L355Splc
c.1064+5G>T
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.K329insFs
c.985_986insAC
1 paper
NM_001387048.1
p.K329*
c.985A>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."