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.F640L

c.1918T>C

Surrounding Variants

1 paper

NM_001543.5

p.F640S

c.1919T>C

3 papers

NM_001543.5

p.F640L

c.1920T>A

3 papers

NM_001543.5

p.F640L

c.1920T>G

2 papers

NM_001543.5

p.E642D

c.1926G>C

3 papers

NM_001543.5

p.E642D

c.1926G>T

1 paper

NM_001543.5

p.S632N

c.1895G>A

1 paper

NM_001543.5

p.N650S

c.1949A>G

1 paper

NM_001543.5

p.I655T

c.1964T>C

2 papers

NM_001543.5

p.D656N

c.1966G>A

1 paper

NM_001543.5

p.D656V

c.1967A>T

1 paper

NM_001543.5

p.Y621C

c.1862A>G

1 paper

NM_001543.5

p.A619D

c.1856C>A