Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.A11fs

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.A11fs
c.31_32fs
Surrounding Variants
2 papers
NM_130468.4
p.A11_G14Fs
c.31_40delinsCCACTGFs
1 paper
NM_130468.4
p.A11D
c.32C>A
1 paper
NM_130468.4
p.T7P
c.19A>C
2 papers
NM_130468.4
p.L6L
c.16C>T
1 paper
NM_130468.4
p.E16K
c.46G>A
2 papers
NM_130468.4
p.E16_R24delFs
c.48_72del25
1 paper
NM_130468.4
p.P17A
c.49C>G
1 paper
NM_130468.4
p.P5insFs
c.14dupC
3 papers
NM_130468.4
p.G19fs
c.55_56fs
4 papers
NM_130468.4
p.R20W
c.58C>T
1 paper
NM_130468.4
p.F2Fs
c.4delinsGCFs
1 paper
NM_130468.4
p.M1delins
c.3delinsTTTTAGATCCATATTTTAG
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