Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.T312A

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
7 papers
NM_000512.5
p.T312A
c.934A>G
Surrounding Variants
26 papers
NM_000512.5
p.T312S
c.934A>T
26 papers
NM_000512.5
p.T312S
c.935C>G
1 paper
NM_000512.5
p.Q311P
c.932A>C
4 papers
NM_000512.5
p.T313A
c.937A>G
4 papers
NM_000512.5
p.K310N
c.930G>T
5 papers
NM_000512.5
p.K310N
c.930G>C
7 papers
NM_000512.5
p.T313M
c.938C>T
1 paper
NM_000512.5
p.F314V
c.940T>G
1 paper
NM_000512.5
p.G309delFs
c.925delC
1 paper
NM_000512.5
p.G309G
c.927G>A
11 papers
NM_000512.5
p.G309R
c.925G>C
1 paper
NM_000512.5
p.E315Q
c.943G>C
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