Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.K69*

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
14 papers
NM_130468.4
p.K69*
c.205A>T
Surrounding Variants
1 paper
NM_130468.4
p.I64F
c.190A>T
1 paper
NM_130468.4
p.L57_E61ins1
c.169_183dup15
3 papers
NM_130468.4
p.G85_L95del11
c.253_284del33
1 paper
NM_130468.4
p.V49fs
c.145_146fs
6 papers
NM_130468.4
p.V49delFs
c.145delG
1 paper
NM_130468.4
p.L93insFs
c.277dupC
1 paper
NM_130468.4
p.L93P
c.278T>C
3 papers
NM_130468.4
p.L41P
c.122T>C
1 paper
NM_130468.4
p.A100S
c.298G>T
1 paper
NM_130468.4
p.R29G
c.85A>G
6 papers
NM_130468.4
p.R29fs
c.85_86fs
3 papers
NM_130468.4
p.R29_A32delFs
c.85_95del11
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."