Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.M318R

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
33 papers
NM_000512.5
p.M318R
c.953T>G
Surrounding Variants
2 papers
NM_000512.5
p.M318K
c.953T>A
1 paper
NM_000512.5
p.M318fs
c.952_953fs
1 paper
NM_000512.5
p.M318L
c.952A>T
1 paper
NM_000512.5
p.M318L
c.952A>C
3 papers
NM_000512.5
p.G317insFs
c.951dupG
1 paper
NM_000512.5
p.R319T
c.956G>C
4 papers
NM_000512.5
p.G317E
c.950G>A
1 paper
NM_000512.5
p.R319K
c.956G>A
6 papers
NM_000512.5
p.G317R
c.949G>C
6 papers
NM_000512.5
p.G317R
c.949G>A
2 papers
NM_000512.5
p.E320K
c.958G>A
5 papers
NM_000512.5
p.G316V
c.947G>T
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."