Varaico: Literature-Extracted Genetic Variants

NDST2

56 papers

RefSeq Summary

This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, i...

Pfam Domains

HSNSD_Naa 83–300UCSCHeparan sulfate-N-deacetylase, N-terminal domain

HSNSD-CEaa 310–514UCSCHeparan sulfate-N-deacetylase, deacetylase domain

Sulfotransfer_1aa 603–803UCSCSulfotransferase domain

Gene Aliases

HGNC Name

N-deacetylase and N-sulfotransferase 2

HGNC Alias Symbols

NST2; HSST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003635.4

p.G58S

c.172G>A

Surrounding Variants

1 paper

NM_003635.4

p.P71L

c.212C>T

1 paper

NM_003635.4

p.P72delFs

c.214delG

1 paper

NM_003635.4

p.R9C

c.25C>T

1 paper

NM_003635.4

p.R121*

c.361C>T

1 paper

NM_003635.4

p.T131N

c.392C>A

1 paper

NM_003635.4

p.V162M

c.484G>A

1 paper

NM_003635.4

p.V162V

c.486G>A

1 paper

NM_003635.4

p.L189fs

c.565_566fs

1 paper

NM_003635.4

p.L191fs

c.571_572fs

2 papers

NM_003635.4

p.L191delFs

c.572delA

1 paper

NM_003635.4

p.P207L

c.620C>T

1 paper

NM_003635.4

p.P247Q

c.740C>A