Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.D288delFs

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.D288delFs
c.863delT
Surrounding Variants
4 papers
NM_000512.5
p.N289D
c.865A>G
4 papers
NM_000512.5
p.D288G
c.863A>G
1 paper
NM_000512.5
p.D288delFs
c.864delG
1 paper
NM_000512.5
p.D288fs
c.862_863fs
6 papers
NM_000512.5
p.N289S
c.866A>G
3 papers
NM_000512.5
p.G290R
c.868G>C
17 papers
NM_000512.5
p.G290S
c.868G>A
2 papers
NM_000512.5
p.A278_S287del0
c.833_859del27
32 papers
NM_000512.5
p.S287L
c.860C>T
NM_001323544.2
p.S293L
c.878C>T
3 papers
NM_000512.5
p.S287W
c.860C>G
1 paper
NM_000512.5
p.G290A
c.869G>C
1 paper
NM_000512.5
p.G290D
c.869G>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."