Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L205L

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.L205L
c.615C>G
Surrounding Variants
1 paper
NM_000512.5
p.L205P
c.614T>C
1 paper
NM_000512.5
p.T206P
c.616A>C
1 paper
NM_000512.5
p.T206I
c.617C>T
26 papers
NM_000512.5
p.N204K
c.612C>G
26 papers
NM_000512.5
p.N204K
c.612C>A
3 papers
NM_000512.5
p.N204S
c.611A>G
3 papers
NM_000512.5
p.N204T
c.611A>C
1 paper
NM_000512.5
p.N204fs
c.610_611fs
2 papers
NM_000512.5
p.A203delFs
c.609delG
1 paper
NM_000512.5
p.T206_Q207delFs
c.618_619delGG
7 papers
NM_000512.5
p.A203V
c.608C>T
1 paper
NM_000512.5
p.K199_A203delFs
c.595_607del13
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