Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.A353V

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.A353V
c.1058C>T
Surrounding Variants
2 papers
NM_000512.5
p.A353E
c.1058C>A
1 paper
NM_000512.5
p.G354fs
c.1060_1061fs
5 papers
NM_000512.5
p.L352P
c.1055T>C
1 paper
NM_000512.5
p.G354delFs
c.1061delC
1 paper
NM_000512.5
p.L355P
c.1064T>C
8 papers
NM_000512.5
p.A351V
c.1052C>T
2 papers
NM_000512.5
p.L350P
c.1049T>C
1 paper
NM_000512.5
p.T356M
c.1067C>T
1 paper
NM_000512.5
p.P357fs
c.1069_1070fs
4 papers
NM_000512.5
p.S349delFs
c.1046delC
1 paper
NM_000512.5
p.S349I
c.1046G>T
1 paper
NM_000512.5
p.S349N
c.1046G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."