Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L366F

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.L366F
c.1096C>T
Surrounding Variants
9 papers
NM_000512.5
p.L366P
c.1097T>C
1 paper
NM_000512.5
p.G365insFs
c.1093_1094insG
2 papers
NM_000512.5
p.G365V
c.1094G>T
1 paper
NM_000512.5
p.N367Y
c.1099A>T
1 paper
NM_000512.5
p.N367S
c.1100A>G
2 papers
NM_000512.5
p.I363T
c.1088T>C
2 papers
NM_000512.5
p.L369F
c.1105C>T
3 papers
NM_000512.5
p.L369P
c.1106T>C
1 paper
NM_000512.5
p.A362insFs
c.1085_1086insGC
6 papers
NM_000512.5
p.P370S
c.1108C>T
3 papers
NM_000512.5
p.R361M
c.1082G>T
4 papers
NM_000512.5
p.R361G
c.1081A>G
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."