Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.C289S

CHST14

87 papers

RefSeq Summary

This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this ...

Pfam Domains

Sulfotransfer_2aa 139–365UCSCSulfotransferase family

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 14

HGNC Previous Symbol

D4ST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_130468.4
p.C289S
c.866G>C
Surrounding Variants
17 papers
NM_130468.4
p.C289S
c.865T>A
21 papers
NM_130468.4
p.Y293C
c.878A>G
1 paper
NM_130468.4
p.F295delFs
c.883_884delTT
1 paper
NM_130468.4
p.F295fs
c.883_884fs
26 papers
NM_130468.4
p.P281L
c.842C>T
1 paper
NM_130468.4
p.S298F
c.893C>T
6 papers
NM_130468.4
p.M280L
c.838A>C
6 papers
NM_130468.4
p.M280L
c.838A>T
2 papers
NM_130468.4
p.Y299C
c.896A>G
1 paper
NM_130468.4
p.E277*
c.829G>T
10 papers
NM_130468.4
p.R274P
c.821G>C
1 paper
NM_130468.4
p.E270V
c.809A>T
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