Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.C116C

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.C116C
c.348C>T
Surrounding Variants
11 papers
NM_004807.3
p.V114G
c.341T>G
2 papers
NM_004807.3
p.R132G
c.394C>G
1 paper
NM_004807.3
p.G99_T100insFs
c.297_298insT
1 paper
NM_004807.3
p.Q95*
c.283C>T
1 paper
NM_004807.3
p.I89I
c.267C>T
22 papers
NM_004807.3
p.D87E
c.261C>G
22 papers
NM_004807.3
p.D87E
c.261C>A
1 paper
NM_004807.3
p.G85delFs
c.253_254delCC
1 paper
NM_004807.3
p.L75_R80insFs
c.224_240dup17
1 paper
NM_004807.3
p.R80C
c.238C>T
1 paper
NM_004807.3
p.R80G
c.238C>G
1 paper
NM_004807.3
p.R73C
c.217C>T
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