Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G301C

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
54 papers
NM_000512.5
p.G301C
c.901G>T
Surrounding Variants
1 paper
NM_000512.5
p.G300insFs
c.900dupT
1 paper
NM_000512.5
p.G301R
c.901G>C
1 paper
NM_000512.5
p.G301S
c.901G>A
2 papers
NM_000512.5
p.G300fs
c.898_899fs
1 paper
NM_000512.5
p.G301G
c.903C>G
1 paper
NM_000512.5
p.G300C
c.898G>T
6 papers
NM_000512.5
p.G300Splc
c.899-1G>C
7 papers
NM_000512.5
p.G300Splc
c.899-2A>G
1 paper
NM_000512.5
p.G300Splc
c.899-2A>C
1 paper
NM_000512.5
p.N303K
c.909C>G
1 paper
NM_000512.5
p.N303K
c.909C>A
1 paper
NM_000512.5
p.G304S
c.910G>A
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