Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.R249S

HS6ST1

153 papers

RefSeq Summary

The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfa...

Pfam Domains

Sulfotransfer_2aa 79–351UCSCSulfotransferase family

Gene Aliases

HGNC Name

heparan sulfate 6-O-sulfotransferase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
27 papers
NM_004807.3
p.R249S
c.745C>A
Surrounding Variants
1 paper
NM_004807.3
p.R252L
c.755G>T
1 paper
NM_004807.3
p.M253_L254del2
c.757_761del6
5 papers
NM_004807.3
p.P242L
c.725C>T
1 paper
NM_004807.3
p.F238L
c.714C>A
1 paper
NM_004807.3
p.C262delFs
c.785delC
1 paper
NM_004807.3
p.T228M
c.683C>T
1 paper
NM_004807.3
p.E226K
c.676G>A
7 papers
NM_004807.3
p.P218S
c.652C>T
1 paper
NM_004807.3
p.R214C
c.640C>T
1 paper
NM_004807.3
p.M210_G213delFs
c.630_637del8
2 papers
NM_004807.3
p.H209H
c.627T>C
1 paper
NM_004807.3
p.T203M
c.608C>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."