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.I167S

c.500T>G

Surrounding Variants

1 paper

NM_001543.5

p.K171_A172Splc

c.513+1G>A

1 paper

NM_001543.5

p.K171_A172Splc

c.513+4C>A

1 paper

NM_001543.5

p.C159S

c.476G>C

1 paper

NM_001543.5

p.C159S

c.475T>A

1 paper

NM_001543.5

p.L155Q

c.464T>A

1 paper

NM_001543.5

p.R152Q

c.455G>A

1 paper

NM_001543.5

p.A149V

c.446C>T

1 paper

NM_001543.5

p.A149S

c.445G>T

1 paper

NM_001543.5

p.L135V

c.403C>G

1 paper

NM_001543.5

p.R132H

c.395G>A

5 papers

NM_001543.5

p.R132C

c.394C>T

1 paper

NM_001543.5

p.R130C

c.388C>T