Varaico: Literature-Extracted Genetic Variants

Gene:CHST13
Variant:p.R317Q

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
3 papers
NM_152889.3
p.R317Q
c.950G>A
Surrounding Variants
1 paper
NM_152889.3
p.R318H
c.953G>A
1 paper
NM_152889.3
p.G296_A297ins1
c.888_889insGCC
1 paper
NM_152889.3
p.R293G
c.877C>G
1 paper
NM_152889.3
p.L286M
c.856C>A
1 paper
NM_152889.3
p.D285N
c.853G>A
3 papers
NM_152889.3
p.A271V
c.812C>T
1 paper
NM_152889.3
p.T269T
c.807G>A
1 paper
NM_152889.3
p.R239P
c.716G>C
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
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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."