Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.Y151insFs

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
2 papers
NM_130468.4
p.Y151insFs
c.453dupC
Surrounding Variants
4 papers
NM_130468.4
p.C152fs
c.454_455fs
1 paper
NM_130468.4
p.P155L
c.464C>T
1 paper
NM_130468.4
p.A158_V168delFs
c.472_503del32
1 paper
NM_130468.4
p.A158fs
c.472_473fs
1 paper
NM_130468.4
p.N161_R164del0
c.483_491del9
1 paper
NM_130468.4
p.W162*
c.485G>A
1 paper
NM_130468.4
p.W162*
c.486G>A
1 paper
NM_130468.4
p.R139_I141del0
c.415_423del9
1 paper
NM_130468.4
p.V165M
c.493G>A
14 papers
NM_130468.4
p.L137Q
c.410T>A
1 paper
NM_130468.4
p.L137P
c.410T>C
13 papers
NM_130468.4
p.R135G
c.403C>G
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