Varaico: Literature-Extracted Genetic Variants

Gene:CHST14

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
1–12 of 105 variants
26 papers
NM_130468.4
p.P281L
c.842C>T
21 papers
NM_130468.4
p.Y293C
c.878A>G
17 papers
NM_130468.4
p.C289S
c.865T>A
17 papers
NM_130468.4
p.C289S
c.866G>C
16 papers
NM_130468.4
p.R213P
c.638G>C
15 papers
NM_130468.4
p.F209S
c.626T>C
14 papers
NM_130468.4
p.K69*
c.205A>T
14 papers
NM_130468.4
p.L137Q
c.410T>A
13 papers
NM_130468.4
p.R135G
c.403C>G
10 papers
NM_130468.4
p.R274P
c.821G>C
10 papers
NM_130468.4
p.E334fs
c.1000_1001fs
6 papers
NM_130468.4
p.R29fs
c.85_86fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."