Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.R214C

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.R214C
c.640C>T
Surrounding Variants
1 paper
NM_004807.3
p.M210_G213delFs
c.630_637del8
7 papers
NM_004807.3
p.P218S
c.652C>T
2 papers
NM_004807.3
p.H209H
c.627T>C
1 paper
NM_004807.3
p.T203M
c.608C>T
1 paper
NM_004807.3
p.E226K
c.676G>A
1 paper
NM_004807.3
p.T228M
c.683C>T
1 paper
NM_004807.3
p.W195*
c.585G>A
1 paper
NM_004807.3
p.W195*
c.584G>A
1 paper
NM_004807.3
p.F238L
c.714C>A
5 papers
NM_004807.3
p.P242L
c.725C>T
4 papers
NM_004807.3
p.R185*
c.553C>T
1 paper
NM_004807.3
p.L184P
c.551T>C
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