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

2 papers

NM_001543.5

p.V295M

c.883G>A

Surrounding Variants

1 paper

NM_001543.5

p.F294fs

c.880_881fs

1 paper

NM_001543.5

p.V293_F294insFs

c.879_880ins8

1 paper

NM_001543.5

p.V293delFs

c.877_878delGT

1 paper

NM_001543.5

p.V298M

c.892G>A

1 paper

NM_001543.5

p.R305C

c.913C>T

1 paper

NM_001543.5

p.P309P

c.927A>G

1 paper

NM_001543.5

p.V279M

c.835G>A

1 paper

NM_001543.5

p.R312C

c.934C>T

1 paper

NM_001543.5

p.Q277H

c.831G>T

1 paper

NM_001543.5

p.G275S

c.823G>A

1 paper

NM_001543.5

p.D274N

c.820G>A

1 paper

NM_001543.5

p.V316M

c.946G>A