Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.K67*

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
7 papers
NM_004807.3
p.K67*
c.199A>T
Surrounding Variants
2 papers
NM_004807.3
p.H63D
c.187C>G
1 paper
NM_004807.3
p.H63N
c.187C>A
1 paper
NM_004807.3
p.P71L
c.212C>T
1 paper
NM_004807.3
p.R73C
c.217C>T
3 papers
NM_004807.3
p.T59T
c.177A>G
1 paper
NM_004807.3
p.D55_L56ins1
c.165_166insTTT
1 paper
NM_004807.3
p.D55delFs
c.163delC
1 paper
NM_004807.3
p.L54L
c.162G>C
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.L75_R80insFs
c.224_240dup17
1 paper
NM_004807.3
p.P50L
c.149C>T
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