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.Y437_H440insFs

c.1311_1318dup8

Surrounding Variants

1 paper

NM_001543.5

p.P438P

c.1314C>A

2 papers

NM_001543.5

p.V439M

c.1315G>A

1 paper

NM_001543.5

p.G435V

c.1304G>T

1 paper

NM_001543.5

p.G435delFs

c.1304delG

1 paper

NM_001543.5

p.H433N

c.1297C>A

1 paper

NM_001543.5

p.A428T

c.1282G>A

1 paper

NM_001543.5

p.D424N

c.1270G>A

1 paper

NM_001543.5

p.P422H

c.1265C>A

3 papers

NM_001543.5

p.R454C

c.1360C>T

1 paper

NM_001543.5

p.V455M

c.1363G>A

1 paper

NM_001543.5

p.V417_E418Splc

c.1252-5C>T

1 paper

NM_001543.5

p.H463delFs

c.1388_1389delAC