Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.P77A

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.P77A
c.229C>G
Surrounding Variants
1 paper
NM_000512.5
p.P77fs
c.229_230fs
3 papers
NM_000512.5
p.P77S
c.229C>T
26 papers
NM_000512.5
p.P77R
c.230C>G
3 papers
NM_000512.5
p.N76K
c.228C>G
3 papers
NM_000512.5
p.N76K
c.228C>A
1 paper
NM_000512.5
p.P77delFs
c.230delG
2 papers
NM_000512.5
p.N76H
c.226A>C
1 paper
NM_000512.5
p.S74_A75delFs
c.221_224del4
5 papers
NM_000512.5
p.A75G
c.224C>G
8 papers
NM_000512.5
p.C79R
c.235T>C
6 papers
NM_000512.5
p.C79S
c.235T>A
1 paper
NM_000512.5
p.C79fs
c.235_236fs
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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."