Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.S80L

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
15 papers
NM_000512.5
p.S80L
c.239C>T
Surrounding Variants
1 paper
NM_000512.5
p.S80W
c.239C>G
1 paper
NM_000512.5
p.S80_P81ins5
c.238_242ins15
1 paper
NM_000512.5
p.S80T
c.238T>A
2 papers
NM_000512.5
p.C79delFs
c.235_236delCA
1 paper
NM_000512.5
p.P81fs
c.241_242fs
6 papers
NM_000512.5
p.C79S
c.236G>C
8 papers
NM_000512.5
p.C79Y
c.236G>A
4 papers
NM_000512.5
p.P81L
c.242C>T
8 papers
NM_000512.5
p.C79R
c.235T>C
6 papers
NM_000512.5
p.C79S
c.235T>A
1 paper
NM_000512.5
p.C79fs
c.235_236fs
1 paper
NM_000512.5
p.P81delFs
c.241delG
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