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.D77H

c.229G>C

Surrounding Variants

1 paper

NM_004784.3

p.G92V

c.275G>T

1 paper

NM_004784.3

p.Y60H

c.178T>C

1 paper

NM_004784.3

p.D94G

c.281A>G

1 paper

NM_004784.3

p.H57H

c.171C>T

1 paper

NM_004784.3

p.I108T

c.323T>C

1 paper

NM_004784.3

p.I110V

c.328A>G

1 paper

NM_004784.3

p.I121V

c.361A>G

1 paper

NM_004784.3

p.A19T

c.55G>A

1 paper

NM_004784.3

p.S144F

c.431C>T

1 paper

NM_004784.3

p.S148G

c.442A>G

1 paper

NM_004784.3

p.S2_F3insFs

c.6_7insA

1 paper

NM_004784.3

p.V172V

c.516A>G