Varaico: Literature-Extracted Genetic Variants

Gene:CHST12
Variant:p.R113H

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.R113H
c.338G>A
Surrounding Variants
1 paper
NM_018641.5
p.R113C
c.337C>T
1 paper
NM_018641.5
p.D110D
c.330C>T
1 paper
NM_018641.5
p.D116H
c.346G>C
1 paper
NM_018641.5
p.R109S
c.325C>A
1 paper
NM_018641.5
p.R129Q
c.386G>A
1 paper
NM_018641.5
p.P94L
c.281C>T
2 papers
NM_018641.5
p.A145P
c.433G>C
1 paper
NM_018641.5
p.N151K
c.453C>A
1 paper
NM_018641.5
p.N151K
c.453C>G
1 paper
NM_018641.5
p.S152L
c.455C>T
1 paper
NM_018641.5
p.L74V
c.220C>G
5 papers
NM_018641.5
p.T61S
c.181A>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."