Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.R306Q

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
5 papers
NM_004807.3
p.R306Q
c.917G>A
Surrounding Variants
4 papers
NM_004807.3
p.R306W
c.916C>T
1 paper
NM_004807.3
p.R314Q
c.941G>A
1 paper
NM_004807.3
p.Q297_R298insT
c.889_893ins3
2 papers
NM_004807.3
p.S321T
c.962G>C
1 paper
NM_004807.3
p.R323W
c.967C>T
4 papers
NM_004807.3
p.R323Q
c.968G>A
1 paper
NM_004807.3
p.R336C
c.1006C>T
1 paper
NM_004807.3
p.D342N
c.1024G>A
1 paper
NM_004807.3
p.L343L
c.1029G>A
1 paper
NM_004807.3
p.M345V
c.1033A>G
1 paper
NM_004807.3
p.C262delFs
c.785delC
1 paper
NM_004807.3
p.Y350F
c.1049A>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."