Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.A278_S287del0

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.A278_S287del0
c.833_859del27
Surrounding Variants
3 papers
NM_000512.5
p.G290R
c.868G>C
17 papers
NM_000512.5
p.G290S
c.868G>A
1 paper
NM_000512.5
p.G290A
c.869G>C
1 paper
NM_000512.5
p.G290D
c.869G>A
6 papers
NM_000512.5
p.N289S
c.866A>G
6 papers
NM_000512.5
p.A291S
c.871G>T
25 papers
NM_000512.5
p.A291T
c.871G>A
4 papers
NM_000512.5
p.N289D
c.865A>G
1 paper
NM_000512.5
p.D288delFs
c.864delG
6 papers
NM_000512.5
p.A291D
c.872C>A
1 paper
NM_000512.5
p.D288delFs
c.863delT
4 papers
NM_000512.5
p.D288G
c.863A>G
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