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.I33F

c.97A>T

Surrounding Variants

1 paper

NM_001543.5

p.R43*

c.127C>T

1 paper

NM_001543.5

p.R43Q

c.128G>A

1 paper

NM_001543.5

p.V19A

c.56T>C

1 paper

NM_001543.5

p.S48A

c.142T>G

1 paper

NM_001543.5

p.S48W

c.143C>G

1 paper

NM_001543.5

p.S15Y

c.44C>A

1 paper

NM_001543.5

p.E53_P59delFs

c.158_177del20

1 paper

NM_001543.5

p.V14A

c.41T>C

1 paper

NM_001543.5

p.H13Q

c.39C>A

1 paper

NM_001543.5

p.H13Q

c.39C>G

1 paper

NM_001543.5

p.R12Q

c.35G>A

1 paper

NM_001543.5

p.P54L

c.161C>T