Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.S335R

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.S335R
c.1003A>C
Surrounding Variants
1 paper
NM_130468.4
p.S335R
c.1005C>A
1 paper
NM_130468.4
p.S335R
c.1005C>G
10 papers
NM_130468.4
p.E334fs
c.1000_1001fs
1 paper
NM_130468.4
p.W327C
c.981G>C
1 paper
NM_130468.4
p.W327C
c.981G>T
3 papers
NM_130468.4
p.W327_E334insFs
c.981_1000dup20
3 papers
NM_130468.4
p.W327fs
c.979_980fs
2 papers
NM_130468.4
p.A326_W327insFs
c.977_980dup4
1 paper
NM_130468.4
p.A323T
c.967G>A
3 papers
NM_130468.4
p.R320*
c.958C>T
1 paper
NM_130468.4
p.W312R
c.934T>A
1 paper
NM_130468.4
p.W312R
c.934T>C
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