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

2 papers

NM_001543.5

p.R244H

c.731G>A

Surrounding Variants

1 paper

NM_001543.5

p.R244C

c.730C>T

1 paper

NM_001543.5

p.V238A

c.713T>C

1 paper

NM_001543.5

p.Y235C

c.704A>G

1 paper

NM_001543.5

p.T234I

c.701C>T

1 paper

NM_001543.5

p.S230*

c.689C>A

1 paper

NM_001543.5

p.S230*

c.689C>G

1 paper

NM_001543.5

p.F228fs

c.682_683fs

1 paper

NM_001543.5

p.T226M

c.677C>T

1 paper

NM_001543.5

p.G222S

c.664G>A

1 paper

NM_001543.5

p.P221L

c.662C>T

1 paper

NM_001543.5

p.P221S

c.661C>T

1 paper

NM_001543.5

p.L220F

c.658C>T