Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L271P

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
3 papers
NM_000512.5
p.L271P
c.812T>C
Surrounding Variants
1 paper
NM_000512.5
p.I265_E270del0
c.794_808del15
1 paper
NM_000512.5
p.E270*
c.808G>T
3 papers
NM_000512.5
p.Q273*
c.817C>T
1 paper
NM_000512.5
p.L269insFs
c.805dupC
1 paper
NM_000512.5
p.L269P
c.806T>C
1 paper
NM_000512.5
p.Q273delFs
c.817_818delTG
1 paper
NM_000512.5
p.D274E
c.822C>G
1 paper
NM_000512.5
p.K267delFs
c.800delT
3 papers
NM_000512.5
p.L275P
c.824T>C
1 paper
NM_000512.5
p.L275delFs
c.824delA
1 paper
NM_000512.5
p.H276Y
c.826C>T
3 papers
NM_000512.5
p.I265T
c.794T>C
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