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.V323L

c.967G>C

Surrounding Variants

1 paper

NM_001543.5

p.V323L

c.967G>T

1 paper

NM_001543.5

p.G324V

c.971G>T

1 paper

NM_001543.5

p.D320A

c.959A>C

1 paper

NM_001543.5

p.D319A

c.956A>C

1 paper

NM_001543.5

p.I318N

c.953T>A

3 papers

NM_001543.5

p.R329C

c.985C>T

2 papers

NM_001543.5

p.R329H

c.986G>A

1 paper

NM_001543.5

p.M330V

c.988A>G

1 paper

NM_001543.5

p.V316M

c.946G>A

1 paper

NM_001543.5

p.R312C

c.934C>T

1 paper

NM_001543.5

p.P309P

c.927A>G

1 paper

NM_001543.5

p.R305C

c.913C>T