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.F574L

c.1720T>C

Surrounding Variants

1 paper

NM_001543.5

p.F574L

c.1722C>A

1 paper

NM_001543.5

p.F574L

c.1722C>G

1 paper

NM_001543.5

p.S575F

c.1724C>T

2 papers

NM_001543.5

p.A567A

c.1701G>A

1 paper

NM_001543.5

p.Q583fs

c.1747_1748fs

1 paper

NM_001543.5

p.Q583_D584Splc

c.1749+2T>C

1 paper

NM_001543.5

p.P562R

c.1685C>G

1 paper

NM_001543.5

p.R557W

c.1669C>T

1 paper

NM_001543.5

p.L556V

c.1666C>G

1 paper

NM_001543.5

p.R548H

c.1643G>A

1 paper

NM_001543.5

p.R548C

c.1642C>T

1 paper

NM_001543.5

p.T542A

c.1624A>G