Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.N204T

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
3 papers
NM_000512.5
p.N204T
c.611A>C
Surrounding Variants
3 papers
NM_000512.5
p.N204S
c.611A>G
26 papers
NM_000512.5
p.N204K
c.612C>G
26 papers
NM_000512.5
p.N204K
c.612C>A
1 paper
NM_000512.5
p.N204fs
c.610_611fs
2 papers
NM_000512.5
p.A203delFs
c.609delG
1 paper
NM_000512.5
p.L205P
c.614T>C
7 papers
NM_000512.5
p.A203V
c.608C>T
1 paper
NM_000512.5
p.K199_A203delFs
c.595_607del13
2 papers
NM_000512.5
p.A203P
c.607G>C
1 paper
NM_000512.5
p.L205L
c.615C>G
1 paper
NM_000512.5
p.T206P
c.616A>C
1 paper
NM_000512.5
p.T206I
c.617C>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."