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.R590C

c.1768C>T

Surrounding Variants

2 papers

NM_001543.5

p.K589R

c.1766A>G

1 paper

NM_001543.5

p.D593_S596del4

c.1777_1787del12

1 paper

NM_001543.5

p.R603C

c.1807C>T

2 papers

NM_001543.5

p.I609M

c.1827C>G

1 paper

NM_001543.5

p.I610F

c.1828A>T

9 papers

NM_001543.5

p.G611S

c.1831G>A

1 paper

NM_001543.5

p.K614R

c.1841A>G

1 paper

NM_001543.5

p.A619D

c.1856C>A

1 paper

NM_001543.5

p.Y621C

c.1862A>G

1 paper

NM_001543.5

p.S632N

c.1895G>A

1 paper

NM_001543.5

p.Q583_D584Splc

c.1749+2T>C

1 paper

NM_001543.5

p.Q583fs

c.1747_1748fs