Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.L41P

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.L41P
c.122T>C
Surrounding Variants
6 papers
NM_130468.4
p.V49delFs
c.145delG
1 paper
NM_130468.4
p.V49fs
c.145_146fs
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
1 paper
NM_130468.4
p.L57_E61ins1
c.169_183dup15
1 paper
NM_130468.4
p.A25T
c.73G>A
1 paper
NM_130468.4
p.L22P
c.65T>C
4 papers
NM_130468.4
p.R20W
c.58C>T
3 papers
NM_130468.4
p.G19fs
c.55_56fs
1 paper
NM_130468.4
p.I64F
c.190A>T
1 paper
NM_130468.4
p.P17A
c.49C>G
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