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.G120V

c.359G>T

Surrounding Variants

1 paper

NM_001543.5

p.P117L

c.350C>T

1 paper

NM_001543.5

p.P123L

c.368C>T

1 paper

NM_001543.5

p.A116V

c.347C>T

1 paper

NM_001543.5

p.I115del1

c.343_345delATT

1 paper

NM_001543.5

p.D127V

c.380A>T

1 paper

NM_001543.5

p.R112C

c.334C>T

1 paper

NM_001543.5

p.R130C

c.388C>T

5 papers

NM_001543.5

p.R132C

c.394C>T

1 paper

NM_001543.5

p.R108H

c.323G>A

1 paper

NM_001543.5

p.R132H

c.395G>A

1 paper

NM_001543.5

p.L135V

c.403C>G

1 paper

NM_001543.5

p.G97D

c.290G>A