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.V348L

c.1042G>C

Surrounding Variants

1 paper

NM_003635.4

p.G302D

c.905G>A

1 paper

NM_003635.4

p.V297I

c.889G>A

1 paper

NM_003635.4

p.D370Y

c.1108G>T

3 papers

NM_003635.4

p.M375V

c.1123A>G

1 paper

NM_003635.4

p.R380C

c.1138C>T

1 paper

NM_003635.4

p.R380H

c.1139G>A

2 papers

NM_003635.4

p.L271delFs

c.812delA

1 paper

NM_003635.4

p.Q267delFs

c.799_800delTG

1 paper

NM_003635.4

p.E249D

c.747G>T

1 paper

NM_003635.4

p.E249D

c.747G>C

1 paper

NM_003635.4

p.P247Q

c.740C>A

1 paper

NM_003635.4

p.P207L

c.620C>T