Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R357Q

CHST3

117 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutat...

Pfam Domains

Sulfotransfer_1aa 132–452UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 3

HGNC Alias Symbols

C6ST; C6ST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_004273.5
p.R357Q
c.1070G>A
Surrounding Variants
2 papers
NM_004273.5
p.G355R
c.1063G>A
2 papers
NM_004273.5
p.G355R
c.1063G>C
2 papers
NM_004273.5
p.W361_G364delins
c.1083_1090delinsCGGCA
1 paper
NM_004273.5
p.A352A
c.1056G>C
2 papers
NM_004273.5
p.L362delFs
c.1086delG
1 paper
NM_004273.5
p.A352T
c.1054G>A
1 paper
NM_004273.5
p.A352S
c.1054G>T
1 paper
NM_004273.5
p.S351F
c.1052C>T
3 papers
NM_004273.5
p.R363Q
c.1088G>A
1 paper
NM_004273.5
p.Y366insFs
c.1096_1097ins4
1 paper
NM_004273.5
p.I348M
c.1044C>G
4 papers
NM_004273.5
p.E372K
c.1114G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."