Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.R189Splc

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
1 paper
NM_000512.5
p.R189Splc
c.567-2A>T
Surrounding Variants
3 papers
NM_000512.5
p.R189Splc
c.567-1G>T
1 paper
NM_000512.5
p.R189T
c.566G>C
1 paper
NM_000512.5
p.R189Splc
c.567-3C>T
1 paper
NM_000512.5
p.Y190H
c.568T>C
2 papers
NM_000512.5
p.Y190C
c.569A>G
2 papers
NM_000512.5
p.Y191D
c.571T>G
3 papers
NM_000512.5
p.Y191C
c.572A>G
1 paper
NM_000512.5
p.Y191*
c.573T>G
1 paper
NM_000512.5
p.E192*
c.574G>T
3 papers
NM_000512.5
p.E192G
c.575A>G
1 paper
NM_000512.5
p.E192D
c.576A>T
1 paper
NM_000512.5
p.E192D
c.576A>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."