Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.M122V

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.M122V
c.364A>G
Surrounding Variants
1 paper
NM_130468.4
p.P126S
c.376C>T
3 papers
NM_130468.4
p.P130_Q133insFs
c.390_397dup8
1 paper
NM_130468.4
p.Q133insFs
c.397dupC
5 papers
NM_130468.4
p.Q133fs
c.397_398fs
3 papers
NM_130468.4
p.R134G
c.400C>G
13 papers
NM_130468.4
p.R135G
c.403C>G
1 paper
NM_130468.4
p.R135_L137delins
c.403_410delinsGGCACCCA
14 papers
NM_130468.4
p.L137Q
c.410T>A
1 paper
NM_130468.4
p.L137P
c.410T>C
1 paper
NM_130468.4
p.R139_I141del0
c.415_423del9
1 paper
NM_130468.4
p.A100S
c.298G>T
1 paper
NM_130468.4
p.L93P
c.278T>C
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