Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.L387delFs

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
1 paper
NM_004807.3
p.L387delFs
c.1161delC
Surrounding Variants
1 paper
NM_004807.3
p.P388fs
c.1162_1163fs
1 paper
NM_004807.3
p.R389W
c.1165C>T
2 papers
NM_004807.3
p.R389Q
c.1166G>A
4 papers
NM_004807.3
p.D393N
c.1177G>A
11 papers
NM_004807.3
p.R382W
c.1144C>T
1 paper
NM_004807.3
p.H381N
c.1141C>A
1 paper
NM_004807.3
p.R375R
c.1125C>T
3 papers
NM_004807.3
p.R375H
c.1124G>A
2 papers
NM_004807.3
p.R375C
c.1123C>T
1 paper
NM_004807.3
p.S374N
c.1121G>A
1 paper
NM_004807.3
p.L372L
c.1114C>T
5 papers
NM_004807.3
p.M404V
c.1210A>G
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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."