Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.W325*

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
6 papers
NM_000512.5
p.W325*
c.975G>A
Surrounding Variants
7 papers
NM_000512.5
p.W325C
c.975G>T
7 papers
NM_000512.5
p.W325C
c.975G>C
8 papers
NM_000512.5
p.W325*
c.974G>A
4 papers
NM_000512.5
p.W326S
c.977G>C
1 paper
NM_000512.5
p.W326*
c.977G>A
1 paper
NM_000512.5
p.W326*
c.978G>A
1 paper
NM_000512.5
p.A324A
c.972A>G
1 paper
NM_000512.5
p.A324fs
c.970_971fs
1 paper
NM_000512.5
p.P327S
c.979C>T
8 papers
NM_000512.5
p.A324E
c.971C>A
3 papers
NM_000512.5
p.W326del1
c.976_977delCCA
1 paper
NM_000512.5
p.A324S
c.970G>T
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