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

3 papers

NM_001543.5

p.A372S

c.1114G>T

Surrounding Variants

1 paper

NM_001543.5

p.A372T

c.1114G>A

1 paper

NM_001543.5

p.S379L

c.1136C>T

1 paper

NM_001543.5

p.E383G

c.1148A>G

1 paper

NM_001543.5

p.M390T

c.1169T>C

1 paper

NM_001543.5

p.M390I

c.1170G>A

1 paper

NM_001543.5

p.L405V

c.1213T>G

1 paper

NM_001543.5

p.M409I

c.1227G>A

1 paper

NM_001543.5

p.M409I

c.1227G>C

1 paper

NM_001543.5

p.M409I

c.1227G>T

1 paper

NM_001543.5

p.A410S

c.1228G>T

1 paper

NM_001543.5

p.A416T

c.1246G>A

1 paper

NM_001543.5

p.A416S

c.1246G>T