Varaico: Literature-Extracted Genetic Variants

Gene:CHST13
Variant:p.R239P

CHST13

42 papers

RefSeq Summary

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylga...

Pfam Domains

Sulfotransfer_2aa 97–333UCSCSulfotransferase family

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 13

HGNC Alias Symbol

C4ST3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152889.3
p.R239P
c.716G>C
Surrounding Variants
1 paper
NM_152889.3
p.R239C
c.715C>T
1 paper
NM_152889.3
p.Y231*
c.693C>A
1 paper
NM_152889.3
p.Y231*
c.693C>G
1 paper
NM_152889.3
p.R224P
c.671G>C
2 papers
NM_152889.3
p.V223M
c.667G>A
1 paper
NM_152889.3
p.V223L
c.667G>C
1 paper
NM_152889.3
p.V223L
c.667G>T
1 paper
NM_152889.3
p.D222G
c.665A>G
1 paper
NM_152889.3
p.R217Q
c.650G>A
1 paper
NM_152889.3
p.P214S
c.640C>T
1 paper
NM_152889.3
p.A212V
c.635C>T
1 paper
NM_152889.3
p.T269T
c.807G>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."