Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.R283C

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.R283C
c.847C>T
Surrounding Variants
1 paper
NM_001387048.1
p.K282R
c.845A>G
3 papers
NM_001387048.1
p.R281L
c.842G>T
2 papers
NM_001387048.1
p.T286P
c.856A>C
1 paper
NM_001387048.1
p.T276I
c.827C>T
1 paper
NM_001387048.1
p.E295K
c.883G>A
1 paper
NM_001387048.1
p.T296_I297Splc
c.888+5G>A
1 paper
NM_001387048.1
p.T265delFs
c.794delG
1 paper
NM_001387048.1
p.R263C
c.787C>T
1 paper
NM_001387048.1
p.W260*
c.780G>A
1 paper
NM_001387048.1
p.W260*
c.779G>A
1 paper
NM_001387048.1
p.A253_P254delFs
c.759_760delGC
2 papers
NM_001387048.1
p.A253T
c.757G>A
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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."