Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G139D

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
2 papers
NM_000512.5
p.G139D
c.416G>A
Surrounding Variants
21 papers
NM_000512.5
p.G139S
c.415G>A
1 paper
NM_000512.5
p.L128_V138del11
c.382_413del33
1 paper
NM_000512.5
p.G139G
c.417C>T
12 papers
NM_000512.5
p.V138A
c.413T>C
1 paper
NM_000512.5
p.K140R
c.419A>G
1 paper
NM_000512.5
p.V138I
c.412G>A
1 paper
NM_000512.5
p.K140delFs
c.419delT
9 papers
NM_000512.5
p.W141R
c.421T>A
3 papers
NM_000512.5
p.I137_K140del0
c.409_420del12
1 paper
NM_000512.5
p.W141fs
c.421_422fs
2 papers
NM_000512.5
p.I137T
c.410T>C
3 papers
NM_000512.5
p.W141*
c.422G>A
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