Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.P125L

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
26 papers
NM_000512.5
p.P125L
c.374C>T
Surrounding Variants
1 paper
NM_000512.5
p.P125P
c.375G>C
2 papers
NM_000512.5
p.P125delFs
c.374delG
2 papers
NM_000512.5
p.P125fs
c.373_374fs
1 paper
NM_000512.5
p.P125S
c.373C>T
4 papers
NM_000512.5
p.E126*
c.376G>T
1 paper
NM_000512.5
p.L124L
c.370C>T
1 paper
NM_000512.5
p.L127F
c.379C>T
1 paper
NM_000512.5
p.L123V
c.367C>G
1 paper
NM_000512.5
p.Q122insFs
c.366dupG
1 paper
NM_000512.5
p.P118_Q122insFs
c.352_365dup14
1 paper
NM_000512.5
p.Q122*
c.364C>T
6 papers
NM_000512.5
p.E121D
c.363G>T
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