Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.Y254*

GALNS

440 papers

RefSeq Summary

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alter...

Pfam Domains

Sulfataseaa 31–355UCSCSulfatase
Sulfatase_Caa 378–509UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

galactosamine (N-acetyl)-6-sulfatase

HGNC Alias Symbols

GALNAC6S; GalN6S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000512.5
p.Y254*
c.762T>G
Surrounding Variants
3 papers
NM_000512.5
p.Y254*
c.762T>A
1 paper
NM_000512.5
p.G255R
c.763G>C
1 paper
NM_000512.5
p.G255R
c.763G>A
12 papers
NM_000512.5
p.Y254C
c.761A>G
1 paper
NM_000512.5
p.Y254H
c.760T>C
2 papers
NM_000512.5
p.G255A
c.764G>C
3 papers
NM_000512.5
p.R253Q
c.758G>A
13 papers
NM_000512.5
p.R253W
c.757C>T
NM_001323544.2
p.R259W
c.775C>T
2 papers
NM_000512.5
p.R253Splc
c.759-2A>G
2 papers
NM_000512.5
p.R253Splc
c.759-3C>G
6 papers
NM_000512.5
p.A257T
c.769G>A
1 paper
NM_000512.5
p.V258I
c.772G>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."