Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G115G

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.G115G
c.345C>T
Surrounding Variants
1 paper
NM_000512.5
p.G115V
c.344G>T
22 papers
NM_000512.5
p.G116S
c.346G>A
NM_001323544.2
p.G122S
c.364G>A
7 papers
NM_000512.5
p.G116V
c.347G>T
1 paper
NM_000512.5
p.G115C
c.343G>T
1 paper
NM_000512.5
p.G116A
c.347G>C
1 paper
NM_000512.5
p.G116D
c.347G>A
1 paper
NM_000512.5
p.G115S
c.343G>A
1 paper
NM_000512.5
p.G116delFs
c.347delC
1 paper
NM_000512.5
p.G115_G116del2
c.343_347del6
1 paper
NM_000512.5
p.I117delFs
c.349delT
1 paper
NM_000512.5
p.I113T
c.338T>C
44 papers
NM_000512.5
p.I113F
c.337A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."