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.H264Q

c.792T>G

Surrounding Variants

1 paper

NM_004784.3

p.H264Q

c.792T>A

1 paper

NM_004784.3

p.Q268*

c.802C>T

1 paper

NM_004784.3

p.F278S

c.833T>C

1 paper

NM_004784.3

p.P246S

c.736C>T

1 paper

NM_004784.3

p.N243K

c.729C>A

1 paper

NM_004784.3

p.N243K

c.729C>G

2 papers

NM_004784.3

p.I289M

c.867C>G

1 paper

NM_004784.3

p.P232Q

c.695C>A

1 paper

NM_004784.3

p.R303M

c.908G>T

1 paper

NM_004784.3

p.D308_G315del0

c.923_943del21

1 paper

NM_004784.3

p.T218A

c.652A>G

1 paper

NM_004784.3

p.K327N

c.981G>C