Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST2
Variant:p.T116I

HS6ST2

64 papers

RefSeq Summary

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, ...

Pfam Domains

Sulfotransfer_2aa 219–491UCSCSulfotransferase family

Gene Aliases

HGNC Name

heparan sulfate 6-O-sulfotransferase 2

HGNC Alias Symbol

HS6ST-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394073.1
p.T116I
c.347C>T
Surrounding Variants
1 paper
NM_001394073.1
p.R117W
c.349C>T
1 paper
NM_001394073.1
p.T116_G118del0
c.346_354del9
2 papers
NM_001394073.1
p.A113V
c.338C>T
1 paper
NM_001394073.1
p.S125W
c.374C>G
1 paper
NM_001394073.1
p.M141L
c.421A>T
4 papers
NM_001394073.1
p.R51L
c.152G>T
4 papers
NM_001394073.1
p.S49L
c.146C>T
1 paper
NM_001394073.1
p.T26T
c.78C>A
1 paper
NM_001394073.1
p.R24L
c.71G>T
1 paper
NM_001394073.1
p.V8fs
c.22_23fs
3 papers
NM_001394073.1
p.V8delFs
c.23delA
2 papers
NM_001394073.1
p.V8fs
c.22_23fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."