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

4 papers

NM_001543.5

p.A736V

c.2207C>T

Surrounding Variants

1 paper

NM_001543.5

p.A736T

c.2206G>A

1 paper

NM_001543.5

p.S738C

c.2213C>G

2 papers

NM_001543.5

p.A740T

c.2218G>A

1 paper

NM_001543.5

p.H731Y

c.2191C>T

1 paper

NM_001543.5

p.Y728delFs

c.2184delC

1 paper

NM_001543.5

p.R745C

c.2233C>T

1 paper

NM_001543.5

p.R750H

c.2249G>A

1 paper

NM_001543.5

p.R718*

c.2152C>T

1 paper

NM_001543.5

p.W756C

c.2268G>C

1 paper

NM_001543.5

p.W756C

c.2268G>T

1 paper

NM_001543.5

p.A758D

c.2273C>A

2 papers

NM_001543.5

p.E762K

c.2284G>A