Varaico: Literature-Extracted Genetic Variants

NDST1

106 papers

RefSeq Summary

This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. Th...

Pfam Domains

HSNSD_Naa 81–301UCSCHeparan sulfate-N-deacetylase, N-terminal domain

HSNSD-CEaa 311–515UCSCHeparan sulfate-N-deacetylase, deacetylase domain

Sulfotransfer_1aa 604–869UCSCSulfotransferase domain

Gene Aliases

HGNC Name

N-deacetylase and N-sulfotransferase 1

HGNC Previous Symbol

HSST

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001543.5

p.S176_L177insG

c.526_530ins3

Surrounding Variants

1 paper

NM_001543.5

p.N175S

c.524A>G

1 paper

NM_001543.5

p.A180A

c.540G>A

1 paper

NM_001543.5

p.P186L

c.557C>T

1 paper

NM_001543.5

p.D197Y

c.589G>T

1 paper

NM_001543.5

p.C198_S199delFs

c.593_596del4

1 paper

NM_001543.5

p.P205L

c.614C>T

1 paper

NM_001543.5

p.V209M

c.625G>A

1 paper

NM_001543.5

p.T210M

c.629C>T

1 paper

NM_001543.5

p.R211Q

c.632G>A

1 paper

NM_001543.5

p.G218V

c.653G>T

1 paper

NM_001543.5

p.L220F

c.658C>T

1 paper

NM_001543.5

p.P221S

c.661C>T