Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.I113F

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
44 papers
NM_000512.5
p.I113F
c.337A>T
Surrounding Variants
1 paper
NM_000512.5
p.I113T
c.338T>C
5 papers
NM_000512.5
p.E112delFs
c.334delC
1 paper
NM_000512.5
p.E112fs
c.334_335fs
1 paper
NM_000512.5
p.Q111L
c.332A>T
6 papers
NM_000512.5
p.Q111R
c.332A>G
1 paper
NM_000512.5
p.G115C
c.343G>T
1 paper
NM_000512.5
p.G115S
c.343G>A
9 papers
NM_000512.5
p.Q111*
c.331C>T
1 paper
NM_000512.5
p.G115V
c.344G>T
1 paper
NM_000512.5
p.G115G
c.345C>T
1 paper
NM_000512.5
p.P110L
c.329C>T
1 paper
NM_000512.5
p.P110R
c.329C>G
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