Varaico: Literature-Extracted Genetic Variants

NDST3

60 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 76–292UCSCHeparan sulfate-N-deacetylase, N-terminal domain

HSNSD-CEaa 302–506UCSCHeparan sulfate-N-deacetylase, deacetylase domain

Sulfotransfer_1aa 595–858UCSCSulfotransferase domain

Gene Aliases

HGNC Name

N-deacetylase and N-sulfotransferase 3

HGNC Alias Symbol

HSST3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004784.3

p.G364R

c.1090G>A

Surrounding Variants

1 paper

NM_004784.3

p.G364R

c.1090G>C

1 paper

NM_004784.3

p.D365A

c.1094A>C

1 paper

NM_004784.3

p.E361G

c.1082A>G

2 papers

NM_004784.3

p.C367W

c.1101T>G

1 paper

NM_004784.3

p.T358P

c.1072A>C

1 paper

NM_004784.3

p.S394*

c.1181C>A

1 paper

NM_004784.3

p.S394*

c.1181C>G

1 paper

NM_004784.3

p.L347P

c.1040T>C