Varaico: Literature-Extracted Genetic Variants

Gene:CHST12
Variant:p.P171delFs

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.P171delFs
c.513delC
Surrounding Variants
1 paper
NM_018641.5
p.K172fs
c.514_515fs
1 paper
NM_018641.5
p.V184M
c.550G>A
1 paper
NM_018641.5
p.S152L
c.455C>T
1 paper
NM_018641.5
p.N151K
c.453C>A
1 paper
NM_018641.5
p.N151K
c.453C>G
2 papers
NM_018641.5
p.A145P
c.433G>C
1 paper
NM_018641.5
p.E205K
c.613G>A
1 paper
NM_018641.5
p.V207fs
c.619_620fs
1 paper
NM_018641.5
p.V207delFs
c.620delT
1 paper
NM_018641.5
p.R129Q
c.386G>A
1 paper
NM_018641.5
p.R222L
c.665G>T
1 paper
NM_018641.5
p.D116H
c.346G>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."