Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.R274P

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
10 papers
NM_130468.4
p.R274P
c.821G>C
Surrounding Variants
1 paper
NM_130468.4
p.E277*
c.829G>T
1 paper
NM_130468.4
p.E270V
c.809A>T
6 papers
NM_130468.4
p.M280L
c.838A>C
6 papers
NM_130468.4
p.M280L
c.838A>T
26 papers
NM_130468.4
p.P281L
c.842C>T
1 paper
NM_130468.4
p.Y266*
c.798C>A
1 paper
NM_130468.4
p.Y266*
c.798C>G
1 paper
NM_130468.4
p.Y266insFs
c.797dupA
1 paper
NM_130468.4
p.L264R
c.791T>G
4 papers
NM_130468.4
p.E262K
c.784G>A
17 papers
NM_130468.4
p.C289S
c.865T>A
17 papers
NM_130468.4
p.C289S
c.866G>C
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