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

6 papers

NM_001543.5

p.R709Q

c.2126G>A

Surrounding Variants

2 papers

NM_001543.5

p.R709W

c.2125C>T

1 paper

NM_001543.5

p.A707V

c.2120C>T

1 paper

NM_001543.5

p.S712Y

c.2135C>A

1 paper

NM_001543.5

p.P706S

c.2116C>T

1 paper

NM_001543.5

p.L703F

c.2107C>T

1 paper

NM_001543.5

p.P695H

c.2084C>A

1 paper

NM_001543.5

p.P695S

c.2083C>T

1 paper

NM_001543.5

p.R689Q

c.2066G>A

1 paper

NM_001543.5

p.R689G

c.2065C>G

2 papers

NM_001543.5

p.R689W

c.2065C>T

1 paper

NM_001543.5

p.R688W

c.2062C>T

1 paper

NM_001543.5

p.P687L

c.2060C>T