Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.P358L

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.P358L
c.1073C>T
Surrounding Variants
4 papers
NM_000512.5
p.P357delFs
c.1070delG
4 papers
NM_000512.5
p.P357L
c.1070C>T
1 paper
NM_000512.5
p.P357fs
c.1069_1070fs
1 paper
NM_000512.5
p.D360Y
c.1078G>T
1 paper
NM_000512.5
p.D360H
c.1078G>C
1 paper
NM_000512.5
p.D360N
c.1078G>A
1 paper
NM_000512.5
p.T356M
c.1067C>T
4 papers
NM_000512.5
p.R361G
c.1081A>G
1 paper
NM_000512.5
p.D360delFs
c.1080delG
1 paper
NM_000512.5
p.L355P
c.1064T>C
3 papers
NM_000512.5
p.R361M
c.1082G>T
1 paper
NM_000512.5
p.G354delFs
c.1061delC
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