Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.E202fs

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
2 papers
NM_000512.5
p.E202fs
c.604_605fs
Surrounding Variants
6 papers
NM_000512.5
p.E202delFs
c.604delC
7 papers
NM_000512.5
p.G201E
c.602G>A
1 paper
NM_000512.5
p.G201W
c.601G>T
2 papers
NM_000512.5
p.A203P
c.607G>C
7 papers
NM_000512.5
p.A203V
c.608C>T
1 paper
NM_000512.5
p.K199_A203delFs
c.595_607del13
3 papers
NM_000512.5
p.T200M
c.599C>T
1 paper
NM_000512.5
p.N204fs
c.610_611fs
2 papers
NM_000512.5
p.A203delFs
c.609delG
3 papers
NM_000512.5
p.N204S
c.611A>G
3 papers
NM_000512.5
p.N204T
c.611A>C
26 papers
NM_000512.5
p.N204K
c.612C>G
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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."