Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L372fs

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.L372fs
c.1114_1115fs
Surrounding Variants
3 papers
NM_000512.5
p.L372delFs
c.1114delG
6 papers
NM_000512.5
p.P370S
c.1108C>T
5 papers
NM_000512.5
p.Q374*
c.1120C>T
1 paper
NM_000512.5
p.L373del1
c.1117_1118delCAG
3 papers
NM_000512.5
p.L369P
c.1106T>C
1 paper
NM_000512.5
p.G375C
c.1123G>T
2 papers
NM_000512.5
p.L369F
c.1105C>T
20 papers
NM_000512.5
p.R376Q
c.1127G>A
1 paper
NM_000512.5
p.N367S
c.1100A>G
1 paper
NM_000512.5
p.L377L
c.1129C>T
1 paper
NM_000512.5
p.N367Y
c.1099A>T
1 paper
NM_000512.5
p.L377delFs
c.1129delG
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