Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.S295_A296insFs

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.S295_A296insFs
c.885_886insTA
Surrounding Variants
9 papers
NM_000512.5
p.S295F
c.884C>T
10 papers
NM_000512.5
p.A296V
c.887C>T
1 paper
NM_000512.5
p.A296D
c.887C>A
1 paper
NM_000512.5
p.E298Q
c.892G>C
1 paper
NM_000512.5
p.E298K
c.892G>A
1 paper
NM_000512.5
p.Q299*
c.895C>T
1 paper
NM_000512.5
p.A292V
c.875C>T
3 papers
NM_000512.5
p.A292delFs
c.874delC
1 paper
NM_000512.5
p.T281_A291del0
c.841_873del33
1 paper
NM_000512.5
p.A292fs
c.874_875fs
1 paper
NM_000512.5
p.Q299insFs
c.896_897insC
1 paper
NM_000512.5
p.G300C
c.898G>T
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