Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G333S

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.G333S
c.997G>A
Surrounding Variants
1 paper
NM_000512.5
p.G333D
c.998G>A
1 paper
NM_000512.5
p.A332T
c.994G>A
5 papers
NM_000512.5
p.Q334*
c.1000C>T
1 paper
NM_000512.5
p.Q334R
c.1001A>G
1 paper
NM_000512.5
p.Q334_V335Splc
c.1002+1G>A
1 paper
NM_000512.5
p.Q334delFs
c.1002delC
2 papers
NM_000512.5
p.H329P
c.986A>C
4 papers
NM_000512.5
p.H329N
c.985C>A
1 paper
NM_000512.5
p.P327P
c.981A>T
1 paper
NM_000512.5
p.P327S
c.979C>T
3 papers
NM_000512.5
p.W326del1
c.976_977delCCA
1 paper
NM_000512.5
p.W326*
c.978G>A
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