Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L307M

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.L307M
c.919C>A
Surrounding Variants
1 paper
NM_000512.5
p.L307insFs
c.919dupC
7 papers
NM_000512.5
p.L307P
c.920T>C
1 paper
NM_000512.5
p.G304_L307del0
c.911_919del9
1 paper
NM_000512.5
p.F306C
c.917T>G
3 papers
NM_000512.5
p.F306S
c.917T>C
2 papers
NM_000512.5
p.F306V
c.916T>G
5 papers
NM_000512.5
p.C308R
c.922T>C
1 paper
NM_000512.5
p.C308Y
c.923G>A
1 paper
NM_000512.5
p.C308delFs
c.922delA
1 paper
NM_000512.5
p.P305P
c.915C>A
1 paper
NM_000512.5
p.C308W
c.924T>G
11 papers
NM_000512.5
p.G309R
c.925G>C
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