Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.N303K

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.N303K
c.909C>A
Surrounding Variants
1 paper
NM_000512.5
p.N303K
c.909C>G
1 paper
NM_000512.5
p.G304S
c.910G>A
1 paper
NM_000512.5
p.G304V
c.911G>T
1 paper
NM_000512.5
p.G304A
c.911G>C
6 papers
NM_000512.5
p.G304D
c.911G>A
1 paper
NM_000512.5
p.N303_G304delins
c.909_912delinsGCTT
1 paper
NM_000512.5
p.G301G
c.903C>G
1 paper
NM_000512.5
p.P305P
c.915C>A
2 papers
NM_000512.5
p.F306V
c.916T>G
1 paper
NM_000512.5
p.F306C
c.917T>G
3 papers
NM_000512.5
p.F306S
c.917T>C
54 papers
NM_000512.5
p.G301C
c.901G>T
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