Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.R224P

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
1 paper
NM_130468.4
p.R224P
c.671G>C
Surrounding Variants
1 paper
NM_130468.4
p.R224L
c.671G>T
1 paper
NM_130468.4
p.K226_G228delFs
c.676_682del7
1 paper
NM_130468.4
p.K226fs
c.676_677fs
5 papers
NM_130468.4
p.K226fs
c.676_677fs
1 paper
NM_130468.4
p.K226_G228Fs
c.676_682delinsGCTFs
2 papers
NM_130468.4
p.K226_G228Fs
c.676_682delinsGCTATGGGGCTFs
4 papers
NM_130468.4
p.G228fs
c.682_683fs
1 paper
NM_130468.4
p.R218L
c.653G>T
6 papers
NM_130468.4
p.R218S
c.652C>A
2 papers
NM_130468.4
p.E217K
c.649G>A
16 papers
NM_130468.4
p.R213P
c.638G>C
1 paper
NM_130468.4
p.R236H
c.707G>A
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