Varaico: Literature-Extracted Genetic Variants

Gene:CHST12
Variant:p.R276W

CHST12

46 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 position 4 of the N-acetylgalactosamine (GalN...

Pfam Domains

Sulfotransfer_2aa 155–406UCSCSulfotransferase family

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 12

HGNC Alias Symbols

C4S-2; C4ST2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018641.5
p.R276W
c.826C>T
Surrounding Variants
1 paper
NM_018641.5
p.A271V
c.812C>T
1 paper
NM_018641.5
p.R268C
c.802C>T
1 paper
NM_018641.5
p.Y267*
c.801C>A
1 paper
NM_018641.5
p.Y267*
c.801C>G
2 papers
NM_018641.5
p.E290K
c.868G>A
1 paper
NM_018641.5
p.F255L
c.765C>A
1 paper
NM_018641.5
p.F255L
c.765C>G
1 paper
NM_018641.5
p.F255L
c.763T>C
1 paper
NM_018641.5
p.T312T
c.936G>A
1 paper
NM_018641.5
p.H229Q
c.687C>A
1 paper
NM_018641.5
p.H229Q
c.687C>G
1 paper
NM_018641.5
p.R327C
c.979C>T
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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."