Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.V138A

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
12 papers
NM_000512.5
p.V138A
c.413T>C
Surrounding Variants
1 paper
NM_000512.5
p.V138I
c.412G>A
21 papers
NM_000512.5
p.G139S
c.415G>A
1 paper
NM_000512.5
p.L128_V138del11
c.382_413del33
2 papers
NM_000512.5
p.I137T
c.410T>C
2 papers
NM_000512.5
p.G139D
c.416G>A
1 paper
NM_000512.5
p.G139G
c.417C>T
1 paper
NM_000512.5
p.K136delFs
c.408delC
1 paper
NM_000512.5
p.K140R
c.419A>G
1 paper
NM_000512.5
p.K140delFs
c.419delT
1 paper
NM_000512.5
p.K136fs
c.406_407fs
1 paper
NM_000512.5
p.K136Q
c.406A>C
9 papers
NM_000512.5
p.W141R
c.421T>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."