Varaico: Literature-Extracted Genetic Variants

Gene:CHST4
Variant:p.S252R

CHST4

39 papers

RefSeq Summary

This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycopro...

Pfam Domains

Sulfotransfer_1aa 42–358UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 4

HGNC Alias Symbols

HEC-GLCNAC-6-ST; LSST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001166395.2
p.S252R
c.754A>C
Surrounding Variants
1 paper
NM_001166395.2
p.S252R
c.756C>A
1 paper
NM_001166395.2
p.S252R
c.756C>G
1 paper
NM_001166395.2
p.R270C
c.808C>T
1 paper
NM_001166395.2
p.S288F
c.863C>T
1 paper
NM_001166395.2
p.R214*
c.640C>T
1 paper
NM_001166395.2
p.R208W
c.622C>T
1 paper
NM_001166395.2
p.L296F
c.888G>C
1 paper
NM_001166395.2
p.F298_L299insFs
c.894_895insG
1 paper
NM_001166395.2
p.R205Q
c.614G>A
1 paper
NM_001166395.2
p.R205L
c.614G>T
2 papers
NM_001166395.2
p.R205W
c.613C>T
1 paper
NM_001166395.2
p.H301Y
c.901C>T
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