Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.R125C

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.R125C
c.373C>T
Surrounding Variants
2 papers
NM_001387048.1
p.A128S
c.382G>T
1 paper
NM_001387048.1
p.Q119*
c.355C>T
1 paper
NM_001387048.1
p.S133_T134insA
c.397_401ins3
1 paper
NM_001387048.1
p.S133N
c.398G>A
2 papers
NM_001387048.1
p.C113Y
c.338G>A
1 paper
NM_001387048.1
p.R137W
c.409C>T
1 paper
NM_001387048.1
p.Y136del1
c.406_408delGTA
1 paper
NM_001387048.1
p.E111*
c.331G>T
1 paper
NM_001387048.1
p.A139Splc
c.415+2T>C
1 paper
NM_001387048.1
p.N105I
c.314A>T
2 papers
NM_001387048.1
p.H104L
c.311A>T
1 paper
NM_001387048.1
p.V101insFs
c.302_303insG
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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."