Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.G85_L95del11

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
3 papers
NM_130468.4
p.G85_L95del11
c.253_284del33
Surrounding Variants
1 paper
NM_130468.4
p.L93insFs
c.277dupC
1 paper
NM_130468.4
p.L93P
c.278T>C
14 papers
NM_130468.4
p.K69*
c.205A>T
1 paper
NM_130468.4
p.A100S
c.298G>T
1 paper
NM_130468.4
p.I64F
c.190A>T
1 paper
NM_130468.4
p.L57_E61ins1
c.169_183dup15
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.M122V
c.364A>G
1 paper
NM_130468.4
p.P126S
c.376C>T
3 papers
NM_130468.4
p.L41P
c.122T>C
3 papers
NM_130468.4
p.P130_Q133insFs
c.390_397dup8
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