Varaico: Literature-Extracted Genetic Variants

Gene:CHST15
Variant:p.R518W

CHST15

65 papers

RefSeq Summary

Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) i...

Pfam Domains

Sulfotransfer_1aa 253–526UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 15

HGNC Alias Symbols

GALNAC4S-6ST; BRAG; KIAA0598

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001270764.2
p.R518W
c.1552C>T
Surrounding Variants
3 papers
NM_001270764.2
p.R519H
c.1556G>A
1 paper
NM_001270764.2
p.M509I
c.1527G>T
1 paper
NM_001270764.2
p.M509I
c.1527G>C
1 paper
NM_001270764.2
p.M509I
c.1527G>A
1 paper
NM_001270764.2
p.A545T
c.1633G>A
1 paper
NM_001270764.2
p.A552T
c.1654G>A
1 paper
NM_001270764.2
p.F493delFs
c.1477_1478delAA
1 paper
NM_001270764.2
p.S466S
c.1398C>T
1 paper
NM_001270764.2
p.W464R
c.1390T>C
1 paper
NM_001270764.2
p.W464R
c.1390T>A
1 paper
NM_001270764.2
p.L462M
c.1384C>A
1 paper
NM_001270764.2
p.L456delFs
c.1366_1367delAG
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