Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.K136delFs

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.K136delFs
c.408delC
Surrounding Variants
2 papers
NM_000512.5
p.I137T
c.410T>C
1 paper
NM_000512.5
p.V138I
c.412G>A
1 paper
NM_000512.5
p.K136fs
c.406_407fs
1 paper
NM_000512.5
p.K136Q
c.406A>C
12 papers
NM_000512.5
p.V138A
c.413T>C
8 papers
NM_000512.5
p.S135R
c.405C>G
7 papers
NM_000512.5
p.S135R
c.405C>A
21 papers
NM_000512.5
p.G139S
c.415G>A
1 paper
NM_000512.5
p.L128_V138del11
c.382_413del33
7 papers
NM_000512.5
p.S135R
c.403A>C
2 papers
NM_000512.5
p.G139D
c.416G>A
1 paper
NM_000512.5
p.V134G
c.401T>G
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