Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.R259W

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
4 papers
NM_000512.5
p.R259W
c.775C>T
Surrounding Variants
2 papers
NM_000512.5
p.R259G
c.775C>G
1 paper
NM_000512.5
p.R259R
c.775C>A
21 papers
NM_000512.5
p.R259Q
c.776G>A
3 papers
NM_000512.5
p.E260K
c.778G>A
1 paper
NM_000512.5
p.V258I
c.772G>A
4 papers
NM_000512.5
p.E260D
c.780G>T
4 papers
NM_000512.5
p.E260D
c.780G>C
6 papers
NM_000512.5
p.A257T
c.769G>A
4 papers
NM_000512.5
p.I261T
c.782T>C
1 paper
NM_000512.5
p.D262V
c.785A>T
2 papers
NM_000512.5
p.G255A
c.764G>C
1 paper
NM_000512.5
p.G255R
c.763G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."