Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.A324fs

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.A324fs
c.970_971fs
Surrounding Variants
1 paper
NM_000512.5
p.A324A
c.972A>G
8 papers
NM_000512.5
p.A324E
c.971C>A
1 paper
NM_000512.5
p.A324S
c.970G>T
1 paper
NM_000512.5
p.A324P
c.970G>C
8 papers
NM_000512.5
p.W325*
c.974G>A
1 paper
NM_001323543.2
p.T128_L138del11
c.382_413del33
7 papers
NM_000512.5
p.W325C
c.975G>T
7 papers
NM_000512.5
p.W325C
c.975G>C
6 papers
NM_000512.5
p.W325*
c.975G>A
1 paper
NM_000512.5
p.L323L
c.969C>T
4 papers
NM_000512.5
p.W326S
c.977G>C
1 paper
NM_000512.5
p.W326*
c.977G>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."