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

1–12 of 245 variants

9 papers

NM_001543.5

p.G611S

c.1831G>A

6 papers

NM_001543.5

p.R709Q

c.2126G>A

5 papers

NM_001543.5

p.R132C

c.394C>T

4 papers

NM_001543.5

p.F640L

c.1918T>C

4 papers

NM_001543.5

p.A736V

c.2207C>T

3 papers

NM_001543.5

p.R80H

c.239G>A

3 papers

NM_001543.5

p.R329C

c.985C>T

3 papers

NM_001543.5

p.A372S

c.1114G>T

3 papers

NM_001543.5

p.R454C

c.1360C>T

3 papers

NM_001543.5

p.F640L

c.1920T>A

3 papers

NM_001543.5

p.F640L

c.1920T>G

3 papers

NM_001543.5

p.E642D

c.1926G>T