Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.G390R

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
1 paper
NM_004273.5
p.G390R
c.1168G>C
Surrounding Variants
1 paper
NM_004273.5
p.A389P
c.1165G>C
3 papers
NM_004273.5
p.R387H
c.1160G>A
1 paper
NM_004273.5
p.E384D
c.1152G>C
1 paper
NM_004273.5
p.E384D
c.1152G>T
2 papers
NM_004273.5
p.R383P
c.1148G>C
1 paper
NM_004273.5
p.W400_I401del2
c.1198_1202del6
1 paper
NM_004273.5
p.Q402*
c.1204C>T
4 papers
NM_004273.5
p.E372K
c.1114G>A
1 paper
NM_004273.5
p.Y366insFs
c.1096_1097ins4
3 papers
NM_004273.5
p.R363Q
c.1088G>A
1 paper
NM_004273.5
p.T417T
c.1251G>C
2 papers
NM_004273.5
p.L362delFs
c.1086delG
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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."