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.D82N

c.244G>A

Surrounding Variants

1 paper

NM_001543.5

p.T81A

c.241A>G

3 papers

NM_001543.5

p.R80H

c.239G>A

2 papers

NM_001543.5

p.R80C

c.238C>T

1 paper

NM_001543.5

p.V85V

c.255G>A

1 paper

NM_001543.5

p.T77I

c.230C>T

1 paper

NM_001543.5

p.V87I

c.259G>A

1 paper

NM_001543.5

p.S94L

c.281C>T

1 paper

NM_001543.5

p.Q95P

c.284A>C

1 paper

NM_001543.5

p.G97D

c.290G>A

1 paper

NM_001543.5

p.R66H

c.197G>A

1 paper

NM_001543.5

p.S65G

c.193A>G

1 paper

NM_001543.5

p.P64S

c.190C>T